Spinocerebellar Ataxia 1; Sca1

Description

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 1; Sca1

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy

And another 42 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Spinocerebellar Ataxia 1; Sca1 Is also known as opca i, opca1, opca4, olivopontocerebellar atrophy i, spinocerebellar atrophy i, opca iv, menzel type opca, olivopontocerebellar atrophy iv, cerebelloparenchymal disorder i, schut-haymaker type opca, cpd1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spinocerebellar Ataxia 1; Sca1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Spinocerebellar Ataxia Type 1 Repeat Expasion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ATXN1
Specificity
100 %
Genes
100 %
SCA1 (ATXN1) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

ATXN1
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Spinocerebellar ataxia 1.

By Center for Human Genetics, Inc (United States).

ATXN1
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 1.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

ATXN1
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

ATXN1, ATXN2, ATXN7, CACNA1A, ATXN3
Specificity
20 %
Genes
100 %

You can get up to 44 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RITSCHER-SCHINZEL SYNDROME 1; RTSC1 HYPERTRIGLYCERIDEMIA, FAMILIAL MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB KOWARSKI SYNDROME ACROMEGALY POLYDACTYLY, PREAXIAL IV