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Infantile onset spinocerebellar ataxia

Known as: SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY, OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS, IOSCA 
National Institutes of Health

Related topics

Related topics

19 relations
AtaxiaAthetosisAtrophy/Degeneration affecting the brainstemAutosomal recessive inheritance

Broader (1)

Spinocerebellar Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Epilepsy in mitochondrial disorders
2012
2012
Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This… 
Review
2011
Review
2011
Inherited mitochondrial neuropathies
Review
2009
Review
2009
Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance
  • J. Finsterer
  • Canadian Journal of Neurological Sciences…
  • 2009
  • Corpus ID: 12815364
Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current… 
Highly Cited
2008
Highly Cited
2008
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1… 
Highly Cited
2007
Highly Cited
2007
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive… 
Highly Cited
2005
Highly Cited
2005
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Infantile onset spinocerebellar ataxia (IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative… 
Highly Cited
2004
Highly Cited
2004
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and… 
1996
1996
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.
Infantile onset spinocerebellar ataxia (IOSCA) is a progressive neurological syndrome exhibiting an autosomal recessive pattern… 
1994
1994
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
Infantile onset spinocerebellar ataxia with sensory neuropathy is a new, inherited multisystem disorder discovered in 19 Finnish… 
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