Article
Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS.
Neurology - 1 Aug 1997
Parboosingh J S, Figlewicz D A, Krizus A, Meininger V, Azad N A, Newman D S, Rouleau G A
Abstract excerpt
The clinical presentation of amyotrophic lateral sclerosis (ALS) is variable and overlaps with that of other motor neuron diseases such as spinobulbar muscular atrophy (SBMA; Kennedy disease). With the identification of disease-specific mutations such as the CAG repeat expansion in the androgen receptor in SBMA, an accurate molecular diagnosis can be made in some patients with motor neuron disease. To determine...
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