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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
2018
Review
2018
Involvement of the Spinal Cord in Mitochondrial Disorders
ABSTRACT This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis… 
2018
2018
Cerebellar atrophy is common among mitochondrial disorders
2018
2018
Spinal cord involvement in Leigh syndrome
2017
2017
Hyperacoustic hypoacusis: A new pontine syndrome—Case report
ABSTRACT We herein report a unique case of a lateral pontine demyelinating lesion presenting with unilateral sensorineural… 
2015
2015
Incremental spare capacity allocation for optical networks restoration
Survivability of optical networks is one of the most relevant planning problems due to its impact on actual deployment cost… 
Review
2011
Review
2011
[IOSCA - Infantile onset spinocerebellar ataxia].
IOSCA is a difficult, progressive degenerative disease causing damage to the peripheral and central nervous system. All known 24… 
2002
2002
cDNA cloning, expression profile and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.
2001
2001
A cooperative file system
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… 
1995
1995
Primary hypogonadism in females with infantile onset spinocerebellar ataxia.
We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary… 
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