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Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions
Author(s) -
Munhoz Renato P.,
Bergeron Catherine,
Lang Anthony E.
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10674
Subject(s) - choreoathetosis , trinucleotide repeat expansion , medicine , atrophy , pathology , dystonia , biology , genetics , psychiatry , allele , gene
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. © 2003 Movement Disorder Society