X linked ataxias: miscellaneous types
Evidence-based neurology checklist on x linked ataxias: miscellaneous types: Ataxia with spastic diplegia Nystagmus Dysarthria Pyramidal signs Mental retardation X-linked recessive ataxia and adult onset dementia X-linked spinocerebellar ataxia (SCA-X1) X-linked recessive congenital ataxia…
Ataxia with spastic diplegia
- Nystagmus
- Dysarthria
- Pyramidal signs
- Mental retardation
X-linked recessive ataxia and adult onset dementia
X-linked spinocerebellar ataxia (SCA-X1)
X-linked recessive congenital ataxia
Infantile X-linked ataxia and deafness
References
- Apak S, Yüksel M, Ozmen M, Saka N, Darendeliler F, Neuhäuser G. Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. Am J Med Genet 1989; 34:155-158.
- Farlow MR, DeMyer W, Dlouhy SR, Hodes ME. X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis. Neurology 1987; 37:602-607.
- Caramins M, Colebatch JG, Bainbridge MN, et al. Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linkedspinocerebellar ataxia (SCA-X1). Hum Mol Genet 2013; 22:4329-4338.
- Spira PJ, McLeod JG, Evans WA. A spinocerebellar degeneration with X-linked inheritance. Brain 1979; 102:27-41.
- Young ID, Moore JR, Tripp JH. Sex-linked recessive congenital ataxia. 1987; 50:1230-1232.
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