Autosomal dominant cerebellar ataxia type III: A review of the phenotypic and genotypic characteristics

Shinsuke Fujioka, Christina Sundal, Zbigniew K Wszolek

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally, by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however, a minority of patients develop clinical features in adolescence. The incidence of ADCA Type III is unknown. ADCA Type III consists of six subtypes, SCA5, SCA6, SCA11, SCA26, SCA30, and SCA31. The subtype SCA6 is the most common. These subtypes are associated with four causative genes and two loci. The severity of symptoms and age of onset can vary between each SCA subtype and even between families with the same subtype. SCA5 and SCA11 are caused by specific gene mutations such as missense, inframe deletions, and frameshift insertions or deletions. SCA6 is caused by trinucleotide CAG repeat expansions encoding large uninterrupted glutamine tracts. SCA31 is caused by repeat expansions that fall outside of the protein-coding region of the disease gene. Currently, there are no specific gene mutations associated with SCA26 or SCA30, though there is a confirmed locus for each subtype. This disease is mainly diagnosed via genetic testing; however, differential diagnoses include pure cerebellar ataxia and non-cerebellar features in addition to ataxia. Although not fatal, ADCA Type III may cause dysphagia and falls, which reduce the quality of life of the patients and may in turn shorten the lifespan. The therapy for ADCA Type III is supportive and includes occupational and speech modalities. There is no cure for ADCA Type III, but a number of recent studies have highlighted novel therapies, which bring hope for future curative treatments.

Original languageEnglish (US)
Pages (from-to)14
Number of pages1
JournalOrphanet Journal of Rare Diseases
DOIs
StateAccepted/In press - Jan 18 2013

Fingerprint

Cerebellar Ataxia
Spinocerebellar Ataxias
Genes
Hope
Trinucleotide Repeat Expansion
Ophthalmoplegia
Mutation
Genetic Testing
Tremor
Ataxia
Deglutition Disorders
Glutamine
Age of Onset
Open Reading Frames
Differential Diagnosis
Therapeutics
Quality of Life
Incidence

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Genetics(clinical)
  • Medicine(all)

Cite this

Autosomal dominant cerebellar ataxia type III : A review of the phenotypic and genotypic characteristics. / Fujioka, Shinsuke; Sundal, Christina; Wszolek, Zbigniew K.

In: Orphanet Journal of Rare Diseases, 18.01.2013, p. 14.

Research output: Contribution to journalArticle

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