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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL)

MedGen UID:
325051
Concept ID:
C1838577
Disease or Syndrome
Synonyms: CARASIL; Cerebrovascular disease with thin skin, alopecia, and disc disease; Maeda syndrome; Subcortical vascular encephalopathy, progressive
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: CARASIL syndrome (703219008); Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (703219008); Maeda syndrome (703219008); Nemoto disease (703219008)
 
Gene: HTRA1
Cytogenetic location: 10q26.13
OMIM®: 600142
Orphanet: ORPHA199354

Disease characteristics

Excerpted from the GeneReview: CARASIL
CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by early-onset changes in the deep white matter of the brain observed on MRI and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 30 years. Twenty-three percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly over the five to 20 years following the onset of neurologic symptoms. Scalp alopecia before age 30 years and acute mid- to lower-back pain (lumbago) with onset between ages ten and 40 years are characteristic. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Osamu Onodera  |  Hiroaki Nozaki  |  Toshio Fukutake   view full author information

Additional description

From GHR
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement. Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the bones of the spine (vertebrae) from one another. The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years.  http://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy

Clinical features

Urinary incontinence
MedGen UID:
776587
Concept ID:
C2712331
Finding
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Sign or Symptom
A finding referring to walking difficulties.
Progressive encephalopathy
MedGen UID:
333129
Concept ID:
C1838578
Finding
Pseudobulbar signs
MedGen UID:
374006
Concept ID:
C1838579
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Abnormality of extrapyramidal motor function
MedGen UID:
505080
Concept ID:
CN001873
Finding
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Arteriosclerosis of small cerebral arteries
MedGen UID:
505723
Concept ID:
CN004374
Finding
Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
Diffuse demyelination of the cerebral white matter
MedGen UID:
501024
Concept ID:
CN006258
Finding
A diffuse loss of myelin from nerve fibers in the central nervous system.
Diffuse white matter abnormalities
MedGen UID:
506038
Concept ID:
CN006299
Finding
Low back pain
MedGen UID:
505536
Concept ID:
CN003084
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Arteriosclerosis of small cerebral arteries
MedGen UID:
505723
Concept ID:
CN004374
Finding
Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGCerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Recent clinical studies

Etiology

Chen Y, He Z, Meng S, Li L, Yang H, Zhang X
J Int Med Res 2013 Oct;41(5):1445-55. Epub 2013 Aug 20 doi: 10.1177/0300060513480926. [Epub ahead of print] PMID: 23963851
Tanaka A, Akamatsu N, Shouzaki T, Toyota T, Yamano M, Nakagawa M, Tsuji S
Seizure 2013 Nov;22(9):772-5. Epub 2013 Jul 10 doi: 10.1016/j.seizure.2013.06.005. [Epub ahead of print] PMID: 23849689

Diagnosis

Nozaki H, Nishizawa M, Onodera O
Stroke 2014 Nov;45(11):3447-53. Epub 2014 Aug 12 doi: 10.1161/STROKEAHA.114.004236. [Epub ahead of print] PMID: 25116877
Tanaka A, Akamatsu N, Shouzaki T, Toyota T, Yamano M, Nakagawa M, Tsuji S
Seizure 2013 Nov;22(9):772-5. Epub 2013 Jul 10 doi: 10.1016/j.seizure.2013.06.005. [Epub ahead of print] PMID: 23849689
Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT
J Neurol Sci 2012 Nov 15;322(1-2):25-30. Epub 2012 Aug 4 doi: 10.1016/j.jns.2012.07.041. [Epub ahead of print] PMID: 22868088

Therapy

Tanaka A, Akamatsu N, Shouzaki T, Toyota T, Yamano M, Nakagawa M, Tsuji S
Seizure 2013 Nov;22(9):772-5. Epub 2013 Jul 10 doi: 10.1016/j.seizure.2013.06.005. [Epub ahead of print] PMID: 23849689

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