Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions.
We present a patient with a 14-year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions.
Munhoz
Renato P
RP
Movement Disorders Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Bergeron
Catherine
C
Lang
Anthony E
AE
D000328:Adult; D001767:Blinking / Q000502:physiology; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D005917:Globus Pallidus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010091:Oximes; D019275:Radiopharmaceuticals; D012438:Saccades / Q000502:physiology; D020531:Subthalamic Nucleus / Q000378:metabolism / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon; D018911:Trinucleotide Repeats / Q000235:genetics*
D010091:Oximes; D019275:Radiopharmaceuticals; C068296:hexamethylpropyleneamine oxime