Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

被引：44

作者：

Nanetti, Lorenzo ^{[1
]}

Fancellu, Roberto ^{[1
]}

Tomasello, Chiara ^{[1
]}

Gellera, Cinzia ^{[1
]}

Pareyson, Davide ^{[2
]}

Mariotti, Caterina ^{[1
]}

机构：

[1] Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, Fdn IRCCS, I-20133 Milan, Italy

[2] Ist Neurol Carlo Besta, Unit Neurol Clin Cent & Peripheral 8, Fdn IRCCS, I-20133 Milan, Italy

来源：

JOURNAL OF NEUROLOGY | 2009年 / 256卷 / 11期

关键词：

Spinocerebellar ataxia type 2 (SCA2); Amyotrophic lateral sclerosis (ALS); Motor neuron disease (MND); AMYOTROPHIC-LATERAL-SCLEROSIS; FAMILIES;

D O I：

10.1007/s00415-009-5237-9

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a rare association of spinocerebellar ataxia and motor neuron disease (MND) in a woman with genetically confirmed SCA2 who subsequently developed a rapidly progressive and fatal form of MND. Considering the rarity of these two neurological conditions, it is interesting to note that the concomitant occurrence of SCA mutations and MND have been previously observed in three cases: in one patient affected by SCA6 and two other cases with SCA2.

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页码：1926 / 1928

页数：3

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