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Psychosis

MedGen UID:
504566
Concept ID:
CN000666
Finding
 
HPO: HP:0000709

Definition

A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPsychosis

Conditions with this feature

Gerstmann-Straussler-Scheinker syndrome
MedGen UID:
4886
Concept ID:
C0017495
Disease or Syndrome
Genetic prion diseases generally manifest with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. Familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI) represent the core phenotypes of genetic prion disease. Note: A fourth clinical phenotype, known as Huntington disease like-1 (HDL-1) has been proposed, but this is based on a single report, and the underlying pathologic features would categorize it as GSS. Although it is clear that these four subtypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset ranges from the third to ninth decade of life. The course ranges from a few months to several years (typically 5-7 years; in rare instances, >10 years).
Neutral 1 amino acid transport defect
MedGen UID:
6723
Concept ID:
C0018609
Disease or Syndrome
Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet.People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition. However, some people with Hartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as depression or psychosis. These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever. These features tend to go away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most commonly occur in childhood.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Adrenoleukodystrophy
MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age =35 years) and milder disease than do affected males.
Variegate porphyria
MedGen UID:
58118
Concept ID:
C0162532
Disease or Syndrome
Variegate porphyria (VP) is a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and heal slowly) of sun-exposed skin, especially the hands and face. Other chronic skin findings include milia, scarring, thickening, and areas of decreased and increased skin pigmentation. Facial hyperpigmentation and hypertrichosis may occur. Cutaneous manifestations may improve in winter, and be less prevalent in northern regions and in dark-skinned individuals. Acute neurovisceral symptoms can occur any time after puberty, but less often in the elderly. Acute manifestations are highly variable, but may be similar from episode to episode in a patient with recurrent attacks; not all symptoms are present in a single episode; and acute symptoms may become chronic. Symptoms are more common in women than men. The most common symptoms are abdominal pain; constipation; pain in the back, chest, and extremities; anxiety; seizures; and a primarily motor neuropathy resulting in muscle weakness that may progress to quadriparesis and respiratory paralysis. Psychiatric disturbances and autonomic neuropathy can also be observed. Acute attacks may be severe and are potentially fatal.
Atrophia bulborum hereditaria
MedGen UID:
75615
Concept ID:
C0266526
Congenital Abnormality
NDP-related retinopathies are characterized by a spectrum of fibrous and vascular changes of the retina at birth that progress through childhood or adolescence to cause varying degrees of visual impairment. The most severe phenotype is described as Norrie disease (ND), characterized by greyish yellow fibrovascular masses (pseudogliomas) secondary to retinal vascular dysgenesis and detachment. Congenital blindness is almost always present. Approximately 30%-50% of males with ND have developmental delay/intellectual disability, behavioral abnormalities, or psychotic-like features. The majority of males with ND develop sensorineural hearing loss. Less severe phenotypes include: persistent hyperplastic primary vitreous (PHPV), characterized by a fibrotic white stalk from the optic disk to the lens; X-linked familial exudative vitreoretinopathy (XL-FEVR), characterized by peripheral retinal vascular anomalies with or without fibrotic changes and retinal detachment; retinopathy of prematurity (ROP); and Coats disease, an exudative proliferative vasculopathy. Phenotypes can vary within families.
Succinate-semialdehyde dehydrogenase deficiency
MedGen UID:
124340
Concept ID:
C0268631
Disease or Syndrome
Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. Epilepsy is present in about half of affected individuals and is more common in adults. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all affected individuals, more commonly in those who are older. Basal ganglia signs including choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described. Individuals with SSADH deficiency typically have 4-hydroxybutyric aciduria present on urine organic acid analysis. Head MRI reveals T2 hyperintensities in multiple regions, involving the globus pallidi, cerebellar dentate nuclei, subthalamic nuclei, subcortical white matter, and brain stem, as well as cerebral and sometimes cerebellar atrophy. EEG findings include background slowing and spike discharges that are usually generalized.
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
MedGen UID:
83337
Concept ID:
C0342286
Congenital Abnormality
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.
Deficiency of butyryl-CoA dehydrogenase
MedGen UID:
90998
Concept ID:
C0342783
Disease or Syndrome
The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question.
Korsakoff psychosis
MedGen UID:
83883
Concept ID:
C0349464
Mental or Behavioral Dysfunction
behavior disorder caused by thiamine deficiency, most commonly due to chronic alcohol abuse; Wernicke's encephalopathy involves confusion, ataxia, nystagmus and ophthalmoplegia and is generally reversible by thiamine administration; Korsakoff's syndrome, involving severe anterograde and retrograde amnesia, may appear later and complete recovery is less frequent.
Choreoacanthocytosis
MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.
Idiopathic basal ganglia calcification 1
MedGen UID:
97952
Concept ID:
C0393590
Disease or Syndrome
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with gradually progressive neuropsychiatric and movement disorders. The main manifestations include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Migraine is frequent and seizures of various types may also occur. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.
Juvenile neuronal ceroid lipofuscinosis
MedGen UID:
155549
Concept ID:
C0751383
Disease or Syndrome
The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. Visual loss is a feature of most forms. Clinical phenotypes have been characterized traditionally according to the age of onset and order of appearance of clinical features into infantile, late-infantile, juvenile, adult, and Northern epilepsy (also known as progressive epilepsy with mental retardation [EPMR]). There is however genetic and allelic heterogeneity; a proposed new nomenclature and classification system has been developed to take into account both the responsible gene and the age at disease onset; for example, CLN1 disease, infantile onset and CLN1 disease, juvenile onset are both caused by pathogenic variants in PPT1 but with differing age of onset. The most prevalent NCLs are CLN3 disease, classic juvenile and CLN2 disease, classic late infantile (although prevalence varies by ethnicity and country of family origin): CLN2 disease, classic late infantile. The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and pyramidal signs. Visual impairment typically appears at age four to six years and rapidly progresses to light /dark awareness only. Life expectancy ranges from age six years to early teenage. CLN3 disease, classic juvenile. Onset is usually between ages four and ten years. Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign. Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years. Life expectancy ranges from the late teens to the 30s. Other forms of NCL may present with behavior changes, epilepsy, visual impairment, or slowing of developmental progress and then loss of skills. The course may be extremely variable. Some genotype-phenotype information is available.
Lafora disease
MedGen UID:
155631
Concept ID:
C0751783
Disease or Syndrome
Lafora disease (LD) is characterized by fragmentary, symmetric, or generalized myoclonus and/or generalized tonic-clonic seizures, visual hallucinations (occipital seizures), and progressive neurologic degeneration including cognitive and/or behavioral deterioration, dysarthria, and ataxia beginning in previously healthy adolescents between ages 12 and 17 years. The frequency and intractability of seizures increase over time. Status epilepticus is common. Emotional disturbance and confusion are common at or soon after onset of seizures and are followed by dementia. Dysarthria and ataxia appear early, spasticity late. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.
Andermann syndrome
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy and variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
X-linked mental retardation with marfanoid habitus syndrome
MedGen UID:
167096
Concept ID:
C0796022
Disease or Syndrome
The phenotypic spectrum of MED12-related disorders, which is still being defined, includes at a minimum the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), and X-linked Ohdo syndrome. FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. X-linked Ohdo syndrome (XLOS) is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some affected females – have been described.
Mental retardation 30, X-linked
MedGen UID:
163235
Concept ID:
C0796237
Disease or Syndrome
Nonsyndromic mental retardation with microcephaly, restlessness, and hyperactivity.
Familial hemiplegic migraine type 1
MedGen UID:
331389
Concept ID:
C1832894
Disease or Syndrome
Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including familial hemiplegic migraine) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech); FHM must include motor involvement, i.e., hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with FHM1 have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. Cerebral infarction and death have rarely been associated with hemiplegic migraine.
Hydrocephalus, sprengel anomaly, and costovertebral dysplasia
MedGen UID:
318750
Concept ID:
C1832948
Disease or Syndrome
Cataract, congenital, with mental impairment and dentate gyrus atrophy
MedGen UID:
334365
Concept ID:
C1843257
Disease or Syndrome
Niemann-Pick disease type C2
MedGen UID:
335942
Concept ID:
C1843366
Disease or Syndrome
Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms.
Mental retardation, X-linked, syndromic 10
MedGen UID:
335353
Concept ID:
C1846168
Disease or Syndrome
Early infantile epileptic encephalopathy 9
MedGen UID:
338393
Concept ID:
C1848137
Disease or Syndrome
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
MedGen UID:
338613
Concept ID:
C1849096
Disease or Syndrome
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven years. By adolescence affected individuals are profoundly deaf and no longer ambulatory; sensory axonal neuropathy, optic atrophy, autonomic nervous system dysfunction, and hypergonadotropic hypogonadism in females become evident. Epilepsy can develop into a serious and often fatal encephalopathy: myoclonic jerks or focal clonic seizures that progress to epilepsia partialis continua followed by status epilepticus with loss of consciousness.
Spastic paraplegia 15
MedGen UID:
341387
Concept ID:
C1849128
Disease or Syndrome
Spastic paraplegia-15 is an autosomal recessive neurodegenerative disorder characterized by progressive spasticity primarily affecting the lower limbs. It is a complex form of spastic paraplegia, associated with other neurologic dysfunction, including variable mental retardation, hearing and visual defects, and thin corpus callosum (summary by Goizet et al., 2009).
Wolfram-like syndrome, autosomal dominant
MedGen UID:
387788
Concept ID:
C1857286
Disease or Syndrome
Autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008). Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290).
Cushing syndrome
MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation of 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
MedGen UID:
347726
Concept ID:
C1858804
Disease or Syndrome
ADCADN is an autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy/cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression (summary by Winkelmann et al., 2012).
Dementia, familial Danish
MedGen UID:
396208
Concept ID:
C1861735
Disease or Syndrome
Hereditary cerebral amyloid angiopathy is a condition that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological problems starting in mid-adulthood. Due to neurological decline, this condition is typically fatal in one's sixties, although there is variation depending on the severity of the signs and symptoms. Most affected individuals die within a decade after signs and symptoms first appear, although some people with the disease have survived longer.There are many different types of hereditary cerebral amyloid angiopathy. The different types are distinguished by their genetic cause and the signs and symptoms that occur. The various types of hereditary cerebral amyloid angiopathy are named after the regions where they were first diagnosed.The Dutch type of hereditary cerebral amyloid angiopathy is the most common form. Stroke is frequently the first sign of the Dutch type and is fatal in about one third of people who have this condition. Survivors often develop dementia and have recurrent strokes. About half of individuals with the Dutch type who have one or more strokes will have recurrent seizures (epilepsy).People with the Flemish and Italian types of hereditary cerebral amyloid angiopathy are prone to recurrent strokes and dementia. Individuals with the Piedmont type may have one or more strokes and typically experience impaired movements, numbness or tingling (paresthesias), confusion, or dementia.The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy is typically a stroke followed by dementia. Strokes associated with the Icelandic type usually occur earlier than the other types, with individuals typically experiencing their first stroke in their twenties or thirties.Strokes are rare in people with the Arctic type of hereditary cerebral amyloid angiopathy, in which the first sign is usually memory loss that then progresses to severe dementia. Strokes are also uncommon in individuals with the Iowa type. This type is characterized by memory loss, problems with vocabulary and the production of speech, personality changes, and involuntary muscle twitches (myoclonus).Two types of hereditary cerebral amyloid angiopathy, known as familial British dementia and familial Danish dementia, are characterized by dementia and movement problems. Strokes are uncommon in these types. People with the Danish type may also have clouding of the lens of the eyes (cataracts) or deafness.
Pigmented nodular adrenocortical disease, primary, 1
MedGen UID:
400627
Concept ID:
C1864846
Disease or Syndrome
Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).
Pigmented nodular adrenocortical disease, primary, 2
MedGen UID:
355843
Concept ID:
C1864851
Disease or Syndrome
Mental retardation, X-linked, syndromic 13
MedGen UID:
368466
Concept ID:
C1968550
Disease or Syndrome
The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental retardation with spasticity and other variable features, described here, and Lubs X-linked mental retardation syndrome (MRXSL; 300260). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal (300673) (Moog et al., 2003; Villard, 2007).
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
3q29 microdeletion syndrome
MedGen UID:
393265
Concept ID:
C2674949
Disease or Syndrome
Mental retardation, anterior maxillary protrusion, and strabismus
MedGen UID:
462274
Concept ID:
C3150924
Disease or Syndrome
Niemann-Pick disease type C1
MedGen UID:
465922
Concept ID:
C3179455
Disease or Syndrome
Niemann-Pick disease type C (NPC) is a lipid storage disease that can present in infants, children, or adults. Neonates can present with ascites and severe liver disease from infiltration of the liver and/or respiratory failure from infiltration of the lungs. Other infants, without liver or pulmonary disease, have hypotonia and developmental delay. The classic presentation occurs in mid-to-late childhood with the insidious onset of ataxia, vertical supranuclear gaze palsy (VSGP), and dementia. Dystonia and seizures are common. Dysarthria and dysphagia eventually become disabling, making oral feeding impossible; death usually occurs in the late second or third decade from aspiration pneumonia. Adults are more likely to present with dementia or psychiatric symptoms.
Epilepsy, nocturnal frontal lobe, 5
MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513).
Mitochondrial complex III deficiency, nuclear type 2
MedGen UID:
767519
Concept ID:
C3554605
Disease or Syndrome
Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).
Idiopathic basal ganglia calcification 5
MedGen UID:
815975
Concept ID:
C3809645
Disease or Syndrome
Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013). For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (213600).

Recent clinical studies

Etiology

Stubbs B, Williams J, Gaughran F, Craig T
Schizophr Res 2016 Mar;171(1-3):103-9. Epub 2016 Jan 21 doi: 10.1016/j.schres.2016.01.034. PMID: 26805414
Fusar-Poli P, Schultze-Lutter F, Cappucciati M, Rutigliano G, Bonoldi I, Stahl D, Borgwardt S, Riecher-Rössler A, Addington J, Perkins DO, Woods SW, McGlashan T, Lee J, Klosterkötter J, Yung AR, McGuire P
Schizophr Bull 2016 May;42(3):732-43. Epub 2015 Nov 20 doi: 10.1093/schbul/sbv162. PMID: 26591006Free PMC Article
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030
Luther L, Lysaker PH, Firmin RL, Breier A, Vohs JL
Schizophr Res 2015 Dec;169(1-3):418-22. Epub 2015 Sep 16 doi: 10.1016/j.schres.2015.08.040. PMID: 26386901
Evans GJ, Reid G, Preston P, Palmier-Claus J, Sellwood W
Psychiatry Res 2015 Aug 30;228(3):626-32. Epub 2015 Jun 11 doi: 10.1016/j.psychres.2015.04.053. PMID: 26099655

Diagnosis

O'Neill SM, Curran EA, Dalman C, Kenny LC, Kearney PM, Clarke G, Cryan JF, Dinan TG, Khashan AS
Schizophr Bull 2016 May;42(3):633-41. Epub 2015 Nov 27 doi: 10.1093/schbul/sbv152. PMID: 26615187Free PMC Article
Fusar-Poli P, Schultze-Lutter F, Cappucciati M, Rutigliano G, Bonoldi I, Stahl D, Borgwardt S, Riecher-Rössler A, Addington J, Perkins DO, Woods SW, McGlashan T, Lee J, Klosterkötter J, Yung AR, McGuire P
Schizophr Bull 2016 May;42(3):732-43. Epub 2015 Nov 20 doi: 10.1093/schbul/sbv162. PMID: 26591006Free PMC Article
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030
Goodby E, MacLeod AK
Br J Clin Psychol 2016 Jun;55(2):93-106. Epub 2015 Oct 29 doi: 10.1111/bjc.12096. PMID: 26514944
Luther L, Lysaker PH, Firmin RL, Breier A, Vohs JL
Schizophr Res 2015 Dec;169(1-3):418-22. Epub 2015 Sep 16 doi: 10.1016/j.schres.2015.08.040. PMID: 26386901

Therapy

Stubbs B, Williams J, Gaughran F, Craig T
Schizophr Res 2016 Mar;171(1-3):103-9. Epub 2016 Jan 21 doi: 10.1016/j.schres.2016.01.034. PMID: 26805414
Chan SK, Tam WW, Lee KW, Hui CL, Chang WC, Lee EH, Chen EY
Int J Soc Psychiatry 2016 May;62(3):205-13. Epub 2015 Dec 31 doi: 10.1177/0020764015621941. PMID: 26721540
O'Neill SM, Curran EA, Dalman C, Kenny LC, Kearney PM, Clarke G, Cryan JF, Dinan TG, Khashan AS
Schizophr Bull 2016 May;42(3):633-41. Epub 2015 Nov 27 doi: 10.1093/schbul/sbv152. PMID: 26615187Free PMC Article
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030
Myles H, Myles N, Large M
Aust N Z J Psychiatry 2016 Mar;50(3):208-19. Epub 2015 Aug 18 doi: 10.1177/0004867415599846. PMID: 26286531

Prognosis

Lenka A, Arumugham SS, Christopher R, Pal PK
J Neurol Sci 2016 May 15;364:33-41. Epub 2016 Mar 3 doi: 10.1016/j.jns.2016.03.005. PMID: 27084212
Stowkowy J, Liu L, Cadenhead KS, Cannon TD, Cornblatt BA, McGlashan TH, Perkins DO, Seidman LJ, Tsuang MT, Walker EF, Woods SW, Bearden CE, Mathalon DH, Addington J
Soc Psychiatry Psychiatr Epidemiol 2016 Apr;51(4):497-503. Epub 2016 Feb 6 doi: 10.1007/s00127-016-1182-y. PMID: 26851943
Stubbs B, Williams J, Gaughran F, Craig T
Schizophr Res 2016 Mar;171(1-3):103-9. Epub 2016 Jan 21 doi: 10.1016/j.schres.2016.01.034. PMID: 26805414
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030
Luther L, Lysaker PH, Firmin RL, Breier A, Vohs JL
Schizophr Res 2015 Dec;169(1-3):418-22. Epub 2015 Sep 16 doi: 10.1016/j.schres.2015.08.040. PMID: 26386901

Clinical prediction guides

Lenka A, Arumugham SS, Christopher R, Pal PK
J Neurol Sci 2016 May 15;364:33-41. Epub 2016 Mar 3 doi: 10.1016/j.jns.2016.03.005. PMID: 27084212
Stowkowy J, Liu L, Cadenhead KS, Cannon TD, Cornblatt BA, McGlashan TH, Perkins DO, Seidman LJ, Tsuang MT, Walker EF, Woods SW, Bearden CE, Mathalon DH, Addington J
Soc Psychiatry Psychiatr Epidemiol 2016 Apr;51(4):497-503. Epub 2016 Feb 6 doi: 10.1007/s00127-016-1182-y. PMID: 26851943
Stubbs B, Williams J, Gaughran F, Craig T
Schizophr Res 2016 Mar;171(1-3):103-9. Epub 2016 Jan 21 doi: 10.1016/j.schres.2016.01.034. PMID: 26805414
Chan SK, Tam WW, Lee KW, Hui CL, Chang WC, Lee EH, Chen EY
Int J Soc Psychiatry 2016 May;62(3):205-13. Epub 2015 Dec 31 doi: 10.1177/0020764015621941. PMID: 26721540
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030

Recent systematic reviews

Lenka A, Arumugham SS, Christopher R, Pal PK
J Neurol Sci 2016 May 15;364:33-41. Epub 2016 Mar 3 doi: 10.1016/j.jns.2016.03.005. PMID: 27084212
Stubbs B, Williams J, Gaughran F, Craig T
Schizophr Res 2016 Mar;171(1-3):103-9. Epub 2016 Jan 21 doi: 10.1016/j.schres.2016.01.034. PMID: 26805414
Fusar-Poli P, Schultze-Lutter F, Cappucciati M, Rutigliano G, Bonoldi I, Stahl D, Borgwardt S, Riecher-Rössler A, Addington J, Perkins DO, Woods SW, McGlashan T, Lee J, Klosterkötter J, Yung AR, McGuire P
Schizophr Bull 2016 May;42(3):732-43. Epub 2015 Nov 20 doi: 10.1093/schbul/sbv162. PMID: 26591006Free PMC Article
Kraan T, Velthorst E, Koenders L, Zwaart K, Ising HK, van den Berg D, de Haan L, van der Gaag M
Psychol Med 2016 Mar;46(4):673-81. Epub 2015 Nov 16 doi: 10.1017/S0033291715002329. PMID: 26568030
Dudley R, Taylor P, Wickham S, Hutton P
Schizophr Bull 2016 May;42(3):652-65. Epub 2015 Oct 31 doi: 10.1093/schbul/sbv150. PMID: 26519952Free PMC Article

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