Autosomal dominant striatal degeneration (ADSD): Clinical description and mapping to 5q13–5q14

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Abstract

Objective:

To describe the clinical and neuroradiologic features and chromosomal mapping of a novel autosomal dominant disease affecting the basal ganglia.

Methods:

The authors characterized a large family with autosomal dominant basal ganglia disease (ADSD) clinically and by MRI, MR spectroscopy (MRS), and SPECT. The authors performed a whole genome genetic linkage scan to map the underlying genetic defect.

Results:

The main clinical features of the disease are dysarthria and gait disturbance without any apparent reduction in life expectancy. MRI demonstrated a distinctive lesion pattern restricted mainly to the putamen and caudate nucleus. Genetic linkage analysis localized the causative genetic defect to a 3.25 megabase candidate region on chromosome 5q13.3-q14.1.

Conclusions:

ADSD is an autosomal dominant basal ganglia disease mapping to chromosome 5q13.3-q14.1.

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