Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3

Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3.

A genetically confirmed case of spinocerebellar ataxia type 3 (SCA 3), presenting with disabling foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported. The dystonia improved dramatically with levodopa treatment in the absence of additional parkinsonian feature. A trial of levodopa for dystonia in SCA 3 may be of therapeutic benefit, at least in the initial stage of the ...

Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.

56-year-old Chinese woman presented to our clinic at age 46 with a 2-year history of progressive instability and impaired manual dexterity. Her initial physical examination revealed broad-based gait, mild dysmetria and facial fasciculations, later complicated by parkinsonian rigidity and bradykinesia. Her family history was notable for similar symptoms— predominantly ataxia—in 3 of her 5 siblin...

Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia.

1. There is marked heterogeneity in the clinical features of spinocerebellar ataxia type 3 (SCA3). 2. Similar to pure ataxia, pure focal dystonia (torticollis) can be the only presenting symptom of SCA3. 3. High level of vigilance to obtaining family history needs to be maintained in susceptible ethnic backgrounds. 4. Genetic testing should be pursued early in such a group despite atypical pres...

The genetics of spinocerebellar ataxia and dystonia

Machado-Joseph disease/spinocerebellar ataxia type 3.

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inher...