Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
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.
Papapetropoulos
Spiridon
S
Department of Neurology, University of Miami, School of Medicine, Miami, Florida 33136, USA.
Lopez-Alberola
Roberto
R
Baumbach
Lisa
L
Russell
Angela
A
Gonzalez
Manuel A
MA
Bowen
Brian C
BC
Singer
Carlos
C
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*