spinocerebellar ataxia (SCA)
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Introduction
Clinically & genetically heterogeneous group of cerebellar ataxias
Pathology
- degeneration of cerebellum
- variable involvement of brainstem & spinal cord
Genetics
Clinical manifestations
- progressive incoordination of gait
- often poor coordination of hands, speech & eye movements
Laboratory
- genetic testing[3] includes
- SCA1, SCA2, SCA3, SCA6, SCA7, SCA8 ,SCA10, SCA17, DRPLA
- SCA gene mutation
- SCA genes CAG repeats
Diagnostic procedures
- nerve conduction study
- axonal neuropathy effecting sensory nerves
- prominent in SCA4
- axonal neuropathy effecting sensory nerves
- visual evoked potential
- useful for identifying SCA7
- EEG useful for identifying DRPLA
Radiology
- magnetic resonance imaging
- cerebellar atrophy
- brainstem atrophy
- cerebral atrophy with compensatory ventricular enlargement
- rule out brain tumor, demyelination, stroke
More general terms
More specific terms
- 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)
Additional terms
- cerebellar ataxia (cerebellar syndrome, cerebellar dysmetria)
- olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype
- spinocerebellar tract
References
- ↑ Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16613893
- ↑ Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15895563
- ↑ 3.0 3.1 GeneTests (NIH) http://www.geneclinics.org
- ↑ 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