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spinocerebellar ataxia (SCA)

Clinically & genetically heterogeneous group of cerebellar ataxias Pathology: - degeneration of cerebellum - variable involvement of brainstem & spinal cord Genetics: - autosomal dominant Clinical manifestations: - progressive incoordination of gait - often poor coordination of hands, speech & eye movements Laboratory: 1) genetic testing [3] includes - SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 ,SCA10, SCA17, DRPLA - SCA gene mutation - SCA genes CAG repeats Special laboratory: 1) nerve conduction study - axonal neuropathy effecting sensory nerves - prominent in SCA4 2) visual evoked potential - useful for identifying SCA7 3) EEG useful for identifying DRPLA Radiology: - magnetic resonance imaging 1) cerebellar atrophy a) most prominent in SCA2 b) least prominent in SCA5, SCA6 2) brainstem atrophy a) SCA1, SCA2, SCA7 b) minimal in SCA3, DRPLA c) rare SCA6 3) cerebral atrophy with compensatory ventricular enlargement - SCA2, infantile variant of SCA7, DRPLA 4) rule out brain tumor, demyelination, stroke

Related

cerebellar ataxia (cerebellar syndrome, cerebellar dysmetria) olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype SCA gene mutation SCA genes CAG repeats spinocerebellar tract

Specific

spinocerebellar ataxia 31; spinocerebellar ataxia Holmes type (SCA31) spinocerebellar ataxia type 1 (SCA-1) or olivopontocerebellar atrophy type 1 (Menzel type) spinocerebellar ataxia type 2 (SCA-2); olivopontocerebellar atrophy, Holguin type spinocerebellar ataxia type 3 (SCA-3); Machado-Joseph disease; Azorean disease spinocerebellar ataxia type 4 (SCA-4) spinocerebellar ataxia type 5 (SCA-5) spinocerebellar ataxia type 6 (SCA-6) spinocerebellar ataxia type 7 (SCA-7); olivopontocerebellar atrophy type 3 (retinal degeneration) spinocerebellar ataxia type 8 (SCA-8) spinocerebellar ataxia type 8R (SCAR8, autosomal recessive cerebellar ataxia type 1/8, recessive ataxia of Beauce) spinocerebellar ataxia type 9 (SCA-9) spinocerebellar ataxia type 10 (SCA-10) spinocerebellar ataxia type 11 (SCA-11) spinocerebellar ataxia type 12 (SCA-12) spinocerebellar ataxia type 13 (SCA-13) spinocerebellar ataxia type 14 (SCA-14) spinocerebellar ataxia type 15 (SCA-15) spinocerebellar ataxia type 16 (SCA-16) spinocerebellar ataxia type 17 (SCA-17) spinocerebellar ataxia type 18 (sensory with neurogenic muscular atrophy) spinocerebellar ataxia type 19 (SCA-19) spinocerebellar ataxia type 21 (SCA-21) spinocerebellar ataxia type 22 (SCA-22) spinocerebellar ataxia type 23 (SCA-23) spinocerebellar ataxia type 25 (SCA-25) spinocerebellar ataxia type 26 (SCA-26) spinocerebellar ataxia type 27 (SCA-27) spinocerebellar ataxia type 28 (SCA-28) spinocerebellar ataxia with axonal neuropathy (SCAN1) spinocerebellar ataxia, autosomal recessive spinocerebellar ataxia, infantile onset with sensory neuropathy (IOSCA)

General

ataxia; dyssynergia cerebellar degeneration genetic disease of the central nervous system

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. GeneTests (NIH) http://www.geneclinics.org
  4. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Ataxias and Cerebellar/Spinocerebellar Degeneration Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Ataxias-and-Cerebellar-or-Spinocerebellar-Degeneration-Information-Page