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Spinocerebellar ataxia 17(SCA17)

MedGen UID:
337637
Concept ID:
C1846707
Disease or Syndrome
Synonyms: HUNTINGTON DISEASE-LIKE 4; SCA 17; SCA17; Spinocerebellar ataxia type 17; Spinocerebellar Ataxia Type17
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): TBP (6q27)
OMIM®: 607136
Orphanet: ORPHA98759

Definition

Spinocerebellar ataxia type 17 (SCA17) is characterized by ataxia, dementia, and involuntary movements, including chorea and dystonia. Psychiatric symptoms, pyramidal signs, and rigidity are common. The age of onset ranges from three to 55 years. Individuals with full-penetrance alleles develop neurologic and/or psychiatric symptoms by age 50 years. Ataxia and psychiatric abnormalities are frequently the initial findings, followed by involuntary movement, parkinsonism, dementia, and pyramidal signs. Brain MRI shows variable atrophy of the cerebrum, brain stem, and cerebellum. The clinical features correlate with the length of the polyglutamine expansion but are not absolutely predictive of the clinical course. [from GeneReviews]

Additional descriptions

From OMIM
SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).  http://www.omim.org/entry/607136
From GHR
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder. HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin. HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.  http://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome

Clinical features

Urinary incontinence
MedGen UID:
776587
Concept ID:
C2712331
Finding
Impaired pursuit initiation and maintenance
MedGen UID:
370086
Concept ID:
C1969722
Finding
Gaze-evoked nystagmus
MedGen UID:
504533
Concept ID:
CN000601
Finding
Nystagmus made apparent by looking to the right or to the left.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
Positive Romberg sign
MedGen UID:
66017
Concept ID:
C0240914
Finding
Depression
MedGen UID:
137999
Concept ID:
C0344315
Finding
Frontal release signs
MedGen UID:
322839
Concept ID:
C1836153
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Frontal lobe dementia
MedGen UID:
337641
Concept ID:
C1846712
Finding
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Confusion
MedGen UID:
368095
Concept ID:
C1963086
Finding
Hallucinations
MedGen UID:
776581
Concept ID:
C2364080
Finding
Aggressive behavior
MedGen UID:
504570
Concept ID:
CN000675
Finding
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Lack of insight
MedGen UID:
504587
Concept ID:
CN000711
Finding
Cerebellar atrophy
MedGen UID:
504781
Concept ID:
CN001166
Finding
Atrophy (wasting) of the cerebellum.
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dystonia
MedGen UID:
504804
Concept ID:
CN001220
Finding
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Myoclonus
MedGen UID:
504806
Concept ID:
CN001224
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
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.
Gait ataxia
MedGen UID:
505076
Concept ID:
CN001868
Finding
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Limb ataxia
MedGen UID:
505079
Concept ID:
CN001872
Finding
A kind of ataxia that affects movements of the extremities.
Chorea
MedGen UID:
505081
Concept ID:
CN001874
Finding
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion.
Intention tremor
MedGen UID:
505089
Concept ID:
CN001882
Finding
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Broad-based gait
MedGen UID:
505120
Concept ID:
CN001936
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Gliosis
MedGen UID:
505139
Concept ID:
CN001968
Finding
The presence of gliosis in the central nervous system.
Apraxia
MedGen UID:
505148
Concept ID:
CN001982
Finding
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Mutism
MedGen UID:
505187
Concept ID:
CN002088
Finding
Diffuse cerebral atrophy
MedGen UID:
505256
Concept ID:
CN002277
Finding
Diffuse unlocalised atrophy affecting the cerebrum.
Paranoia
MedGen UID:
506640
Concept ID:
CN167725
Finding
A persecutory delusion of supposed hostility of others.
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSpinocerebellar ataxia 17
Follow this link to review classifications for Spinocerebellar ataxia 17 in Orphanet.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. [Epub ahead of print] PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. [Epub ahead of print] PMID: 20050888

Recent clinical studies

Etiology

Mehanna R, Itin I
Cerebellum 2013 Aug;12(4):568-71. doi: 10.1007/s12311-013-0466-y. PMID: 23475385
Paradisi I, Ikonomu V, Arias S
J Hum Genet 2013 Jan;58(1):3-6. Epub 2012 Sep 13 doi: 10.1038/jhg.2012.111. [Epub ahead of print] PMID: 22971727
Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J
Clin Genet 2008 May;73(5):480-5. Epub 2008 Mar 12 doi: 10.1111/j.1399-0004.2008.00981.x. [Epub ahead of print] PMID: 18341606
Craig K, Keers SM, Walls TJ, Curtis A, Chinnery PF
J Neurol Sci 2005 Dec 15;239(1):105-9. Epub 2005 Oct 11 doi: 10.1016/j.jns.2005.08.009. [Epub ahead of print] PMID: 16223509
Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C
Mov Disord 2004 Feb;19(2):217-20. doi: 10.1002/mds.10600. PMID: 14978680

Diagnosis

Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP
J Neurosci 2013 May 22;33(21):9068-81. doi: 10.1523/JNEUROSCI.5622-12.2013. PMID: 23699518
Mehanna R, Itin I
Cerebellum 2013 Aug;12(4):568-71. doi: 10.1007/s12311-013-0466-y. PMID: 23475385
Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J
Clin Genet 2008 May;73(5):480-5. Epub 2008 Mar 12 doi: 10.1111/j.1399-0004.2008.00981.x. [Epub ahead of print] PMID: 18341606
Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, Zühlke C, Nitschke MF, Brockmann K, Klein C, Rolfs A, Binkofski F
Brain 2006 Sep;129(Pt 9):2341-52. Epub 2006 Jun 7 doi: 10.1093/brain/awl148. [Epub ahead of print] PMID: 16760196
Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C
Mov Disord 2004 Feb;19(2):217-20. doi: 10.1002/mds.10600. PMID: 14978680

Therapy

Belluzzo M, Musho-Ilbeh S, Monti F, Pizzolato G
Seizure 2012 Dec;21(10):805-6. Epub 2012 Sep 19 doi: 10.1016/j.seizure.2012.08.006. [Epub ahead of print] PMID: 22999214

Prognosis

Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C
Mov Disord 2004 Feb;19(2):217-20. doi: 10.1002/mds.10600. PMID: 14978680

Clinical prediction guides

Kelp A, Koeppen AH, Petrasch-Parwez E, Calaminus C, Bauer C, Portal E, Yu-Taeger L, Pichler B, Bauer P, Riess O, Nguyen HP
J Neurosci 2013 May 22;33(21):9068-81. doi: 10.1523/JNEUROSCI.5622-12.2013. PMID: 23699518
Reetz K, Kleiman A, Klein C, Lencer R, Zuehlke C, Brockmann K, Rolfs A, Binkofski F
PLoS One 2011 Jan 19;6(1):e15125. doi: 10.1371/journal.pone.0015125. PMID: 21311576Free PMC Article
Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, Walter U, Wolters A, Steinlechner S, Zühlke C, Brockmann K, Klein C, Rolfs A, Binkofski F
Cerebellum 2010 Jun;9(2):210-7. doi: 10.1007/s12311-009-0150-4. PMID: 20016963
Stevanin G, Brice A
Cerebellum 2008;7(2):170-8. doi: 10.1007/s12311-008-0016-1. PMID: 18418687
Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, Zühlke C, Nitschke MF, Brockmann K, Klein C, Rolfs A, Binkofski F
Brain 2006 Sep;129(Pt 9):2341-52. Epub 2006 Jun 7 doi: 10.1093/brain/awl148. [Epub ahead of print] PMID: 16760196

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