The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.
Harding AE (1993). "Clinical features and classification of inherited ataxias.". Advances in neurology61: 1–14. PMID8421960.
Ashizawa T, Matsuura T (2002). "[Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion]". Rinsho Shinkeigaku41 (12): 1120–2. PMID12235814.
Grewal RP, Tayag E, Figueroa KP, et al. (1998). "Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.". Neurology51 (5): 1423–6. doi:10.1212/wnl.51.5.1423. PMID9818872.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature402 (6761): 489–95. doi:10.1038/990031. PMID10591208.
Matsuura T, Yamagata T, Burgess DL, et al. (2000). "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.". Nat. Genet.26 (2): 191–4. doi:10.1038/79911. PMID11017075.