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1995 3
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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
Whaley NR, Fujioka S, Wszolek ZK. Whaley NR, et al. Orphanet J Rare Dis. 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. Orphanet J Rare Dis. 2011. PMID: 21619691 Free PMC article. Review.
Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable depending on the type of ADCA and even among kindreds....
Occupational and physical therapy for gait dysfunction and speech therapy for dysarthria is essential. Prognosis is variable dependin …
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2).
Dürr A, Brice A, Lepage-Lezin A, Cancel G, Smadja D, Vernant JC, Agid Y. Dürr A, et al. Clin Neurosci. 1995;3(1):12-6. Clin Neurosci. 1995. PMID: 7614088 Review.
A mean 12.5 year anticipation is observed, with a more rapid clinical course of the disease in successive generations, indicating that an expanded trinucleotide repeat probably constitutes the underlying molecular mechanism....
A mean 12.5 year anticipation is observed, with a more rapid clinical course of the disease in successive generations, indicating tha …
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families.
Dürr A, Smadja D, Cancel G, Lezin A, Stevanin G, Mikol J, Bellance R, Buisson GG, Chneiweiss H, Dellanave J, et al. Dürr A, et al. Brain. 1995 Dec;118 ( Pt 6):1573-81. doi: 10.1093/brain/118.6.1573. Brain. 1995. PMID: 8595486
Mean age at onset was 33 +/- 16 years, and onset before the age of 20 years was correlated with a more rapid and severe course of the disease. Movement disorders, oculomotor disturbances, sphincter disturbances and cognitive impairment were significantly more frequent in e …
Mean age at onset was 33 +/- 16 years, and onset before the age of 20 years was correlated with a more rapid and severe course of the …
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.
Filla A, De Michele G, Campanella G, Perretti A, Santoro L, Serlenga L, Ragno M, Calabrese O, Castaldo I, De Joanna G, Cocozza S. Filla A, et al. J Neurol Sci. 1996 Oct;142(1-2):140-7. doi: 10.1016/0022-510x(96)00177-3. J Neurol Sci. 1996. PMID: 8902734
SCA2 patients showed higher occurrence of peripheral neuropathy and slow saccades, rarer corticospinal signs and a milder course of the disease in comparison with SCA1 patients....
SCA2 patients showed higher occurrence of peripheral neuropathy and slow saccades, rarer corticospinal signs and a milder course of t …
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.
Verschuuren-Bemelmans CC, Brunt ER, Burton M, Mensink RG, van der Meulen MA, Smit NH, Stolte-Dijkstra I, Buys CH, Scheffer H. Verschuuren-Bemelmans CC, et al. Hum Genet. 1995 Dec;96(6):691-4. doi: 10.1007/BF00210301. Hum Genet. 1995. PMID: 8522329
This finding will benefit the individuals at risk in these two families who are seeking predictive testing or prenatal diagnosis....
This finding will benefit the individuals at risk in these two families who are seeking predictive testing or prenatal diagnosis....