spinocerebellar disease

MedGen UID:: 11554
•Concept ID:: C0037952
•: Disease or Syndrome

Synonyms:	Degeneration, Spino Cerebellar; Degeneration, Spino-Cerebellar; Degeneration, Spinocerebellar; Degenerations, Spino Cerebellar; Degenerations, Spinocerebellar; Spino Cerebellar Degeneration; Spino Cerebellar Degenerations; Spino-Cerebellar Degeneration; Spino-Cerebellar Degenerations; Spinocerebellar Degeneration; Spinocerebellar Degenerations; Spinocerebellar Disease; Spinocerebellar Diseases
SNOMED CT:	Spinocerebellar disease (91502009)

Definition

A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVspinocerebellar disease

Disease
- Disorder by Site
  - Disorder of nervous system
    - Disorder of the central nervous system
      - Brain disorder
        Cerebellar disorder
        spinocerebellar disease
        Early onset cerebellar ataxia with myoclonus
        Friedreich ataxia
        Friedreich ataxia 1
        Friedreich ataxia 2
        Olivopontocerebellar atrophy
        Spinocerebellar atrophy
        Ataxia with oculomotor apraxia type 3
        Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
        Ataxia-telangiectasia syndrome
        Autosomal dominant cerebellar ataxia
        Autosomal recessive cerebellar ataxia
        Autosomal recessive ataxia due to ubiquinone deficiency
        Autosomal recessive ataxia, Beauce type
        Autosomal recessive spinocerebellar ataxia 7
        Autosomal recessive spinocerebellar ataxia 10
        Autosomal recessive spinocerebellar ataxia 14
        Autosomal recessive spinocerebellar ataxia 16
        Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
        Azorean disease
        Machado-Joseph disease type 1
        Machado-Joseph disease type 2
        Machado-Joseph disease type 3
        Familial isolated deficiency of vitamin E
        Spinocerebellar ataxia 7
        Spinocerebellar ataxia type 1
        Spinocerebellar ataxia type 2
        Spinocerebellar ataxia type 6
        Spinocerebellar ataxia type 12
        Spinocerebellar ataxia type 17
        Spinocerebellar Ataxia Type 19/22
        Spinocerebellar ataxia type 31
        Spinocerebellar ataxia type 36
        Spinocerebellar ataxia type 42
        Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Professional guidelines

PubMed

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W, Li M, Wang X, Lu H, Hao Y, Chen D, Zhu S, Ji D, Zhang Z, Zhou P, Cao Y
J Assist Reprod Genet 2024 May;41(5):1245-1259. Epub 2024 Mar 12 doi: 10.1007/s10815-024-03057-1. PMID: 38470552 Free PMC Article

What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

Guimarães L, Sequeiros J, Skirton H, Paneque M
J Genet Couns 2013 Aug;22(4):437-47. Epub 2013 Jan 7 doi: 10.1007/s10897-012-9561-3. PMID: 23292684

The differential diagnosis of chorea.

Wild EJ, Tabrizi SJ
Pract Neurol 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. PMID: 18024776

See all (4)

Recent clinical studies

Etiology

Depression in patients referred to a dementia clinic. A three-year prospective study.

Reding M, Haycox J, Blass J
Arch Neurol 1985 Sep;42(9):894-6. doi: 10.1001/archneur.1985.04060080080019. PMID: 4026634

See all (1)

Diagnosis

An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia.

Tashiro H, Suzuki SO, Hitotsumatsu T, Iwaki T
Clin Neuropathol 1999 Jul-Aug;18(4):198-204. PMID: 10442462

Distribution of cerebellar cortical lesions in multiple system atrophy: a topographic neuropathological study of three autopsy cases in Japan.

Tsuchiya K, Watabiki S, Sano M, Iobe H, Shiotsu H, Taki K, Hashimoto K
J Neurol Sci 1998 Feb 18;155(1):80-5. doi: 10.1016/s0022-510x(97)00279-7. PMID: 9562327

Preliminary findings on the variation of serum apolipoprotein levels in neural degenerative disorders.

Ikeda T, Sugiuchi H, Senba U, Shibuya Y, Uji Y, Okabe H, Araki S
J Clin Lab Anal 1993;7(1):1-4. doi: 10.1002/jcla.1860070102. PMID: 8426269

Depression in patients referred to a dementia clinic. A three-year prospective study.

Reding M, Haycox J, Blass J
Arch Neurol 1985 Sep;42(9):894-6. doi: 10.1001/archneur.1985.04060080080019. PMID: 4026634

See all (4)