Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
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.
Kuhlenbäumer
G
G
Department of Neurology, University of Münster, Germany. gkuhlen@uni-muenster.de
Lüdemann
P
P
Schirmacher
A
A
De Vriendt
E
E
Hünermund
G
G
Young
P
P
Hund-Georgiadis
M
M
Schuierer
G
G
Möller
H
H
Ringelstein
E B
EB
Van Broeckhoven
C
C
Timmerman
V
V
Stögbauer
F
F
D001480:Basal Ganglia Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D002421:Caudate Nucleus / Q000473:pathology; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D004252:DNA Mutational Analysis; D004401:Dysarthria / Q000209:etiology; D005260:Female; D005293:Ferritins / Q000235:genetics; D005684:Gait; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D018476:Hypokinesia / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011699:Putamen / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
D005293:Ferritins