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X-linked spinocerebellar ataxia type 4

MedGen UID:
337122
•Concept ID:
C1844933
•
Disease or Syndrome
Synonym: Ataxia-dementia syndrome X-linked
SNOMED CT: X-linked spinocerebellar ataxia type 4 (719818007); X-linked ataxia dementia syndrome (719818007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010534
OMIM®: 301840
Orphanet: ORPHA85292

Definition

Spinocerebellar ataxia, X-linked, type 4 has characteristics of ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked spinocerebellar ataxia type 4
Follow this link to review classifications for X-linked spinocerebellar ataxia type 4 in Orphanet.

Professional guidelines

PubMed

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Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Current concepts in the treatment of hereditary ataxias.
Braga Neto P, Pedroso JL, Kuo SH, Marcondes Junior CF, Teive HA, Barsottini OG
Arq Neuropsiquiatr 2016 Mar;74(3):244-52. doi: 10.1590/0004-282X20160038. PMID: 27050855Free PMC Article
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC
Clin Genet 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. PMID: 17204042

Recent clinical studies

Etiology

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Genetic mimics of cerebral palsy.
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Hereditary ataxias.
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Diagnosis

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Manto M, Gandini J, Feil K, Strupp M
Curr Opin Neurol 2020 Feb;33(1):150-160. doi: 10.1097/WCO.0000000000000774. PMID: 31789706
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM
Mov Disord 2019 May;34(5):625-636. Epub 2019 Mar 26 doi: 10.1002/mds.27655. PMID: 30913345
Genetic cerebellar ataxias.
Storey E
Semin Neurol 2014 Jul;34(3):280-92. Epub 2014 Sep 5 doi: 10.1055/s-0034-1386766. PMID: 25192506
Cerebellar ataxias.
Manto M, Marmolino D
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Therapy

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Prognosis

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Manto M, Habas C
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Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC
Clin Genet 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x. PMID: 17204042

Clinical prediction guides

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Microsatellite repeat instability and neurological disease.
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Bioessays 2009 Jan;31(1):71-83. doi: 10.1002/bies.080122. PMID: 19154005Free PMC Article
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

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