title: Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
abstract: We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.
authors: Department of Neurology, University of Miami, School of Medicine, Miami, Florida 33136, USA.
authors: Spiridon
authors: S
authors: Papapetropoulos
authors: Roberto
authors: R
authors: Lopez-Alberola
authors: Lisa
authors: L
authors: Baumbach
authors: Angela
authors: A
authors: Russell
authors: Manuel A
authors: MA
authors: Gonzalez
authors: Brian C
authors: BC
authors: Bowen
authors: Carlos
authors: C
authors: Singer
mesh_terms: D000483:Alleles; D001284:Atrophy / Q000473:pathology; D001479:Basal Ganglia / Q000473:pathology; D002421:Caudate Nucleus / Q000473:pathology; D002648:Child; D003072:Cognition Disorders / Q000209:etiology; D004401:Dysarthria / Q000209:etiology; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009035:Mothers; D019957:Motor Skills Disorders / Q000209:etiology; D011187:Posture / Q000502:physiology; D012021:Reflex, Abnormal; D012026:Reflex, Stretch; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*