Abstract Details

Title Juvenile Huntington's Disease in An Argentinean Population

Topic Movement Disorders

Presentation(s) P07 - (-)

Poster/Presentation
Number 213

Objective

Background BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and psychiatric manifestations. It is caused by an abnormal CAG expansion, in the coding region of IT15 gene at chromosome 4p16.3. Onset before the age of 20 years is classified as Juvenile onset HD (JHD), which can be further divided into childhood (?10 years) and adolescent (11-20 years) onset. JHD prevalence ranges from 1% to 15%. Parkinsonian-akinetic syndrome and dystonia are the dominant motor features in JHD. Additional neurological features include: cerebellar signs, epilepsy, myoclonus, gait disorders and spasticity. Behavioural problems, cognitive decline are also common in JHD. Ethnicity background might play a role in modulating the phenotype.

Design/Methods DESIGN/METHODS: The study was approved by institutional review board. JHD patients were identified from our database. Inclusion criteria were: disease onset ? 20 years and clinical diagnosis of HD with molecular confirmation or parent with clinical and molecular clinical diagnosis of HD. Demographic, epidemiological, clinical and genetic data were analyzed. Descriptive statistics was used to describe the sample.

Results RESULTS: 60 HD patients were identified. JHD was individualized in 6 women and 5 men (18%), they had 40-80 CAG repeats, and mean age at onset 12.9 years. Paternal inheritance was reported in 7/10 cases. Seizures occurred in 1 case, in 3 Westphal variant and behavioral disorders were present in all cases. MRI showed caudate atrophy and putaminal hyperintensity on T2 in 4 patients. Childhood onset (?10 years) occurred in 3 patients (5%), with a range of 43-80.nCAG repeats.

Conclusions CONCLUSIONS: This is the first reported series of JHD from Argentina. Beside the small sample, the present study shows a higher prevalence than previous studies from other countries. Meanwhile, seizures were less reported than other international series.

Authors/Disclosures
Emilia M. Gatto, MD, FAAN (INEBA) PRESENTER	Dr. Gatto has received personal compensation in the range of $0-$499 for serving as a Consultant for UCB. Dr. Gatto has received personal compensation in the range of $0-$499 for serving as a Consultant for Bago Argentina. Dr. Gatto has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bago. Dr. Gatto has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB. Dr. Gatto has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Janssen. Dr. Gatto has received research support from Roche. The institution of Dr. Gatto has received research support from CHDI.
	No disclosure on file
	No disclosure on file
Gabriel Persi (Sanatorio de la Trinidad Mitre)	Gabriel Persi has nothing to disclose.
Jose Luis Etcheverry, MD	No disclosure on file
Stefano F. Cappa, MD	Dr. Cappa has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Elservier. The institution of Dr. Cappa has received research support from Italian Minsitry of Health.
Olga Ciccarelli, MD, PhD, FRCP (UCL Institute of Neurology)	Prof. Ciccarelli has received personal compensation in the range of $0-$499 for serving as a Consultant for Lundebeck. Prof. Ciccarelli has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Prof. Ciccarelli has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Prof. Ciccarelli has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Merck. Prof. Ciccarelli has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for NEUROLOGY Journal.

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