Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy?

• Published in: Journal of the neurological sciences Vol. 277; no. 1-2; pp. 143 - 146
• Main Authors: Herishanu, Yuval O., Parvari, Ruti, Pollack, Yaakov, Shelef, Ilan, Marom, Batia, Martino, Tiziana, Cannella, Milena, Squitieri, Ferdinando
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 15.02.2009; Elsevier
• Subjects: Age; Aged; Atrophy; Biological and medical sciences; Brain; Cerebellum; Chorea; Cognitive ability; Consanguinity; Cortex; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dystonia; Family Health; Female; Genetic screening; Humans; Huntingtin Protein; Huntington Disease - genetics; Huntington Disease - pathology; Huntington disease mutation penetrance; Huntington disease phenocopies; Huntington disease pre-mutations; Huntington's disease; Inbreeding; Inclusion bodies; Israel; Karaite community; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Movement disorder; Movement disorders; Mutation; Myopathy; Nerve Tissue Proteins - genetics; Neuroimaging; Neurology; Nuclear Proteins - genetics; Pedigree; Phenotype; trinucleotide repeat diseases; Trinucleotide Repeats - genetics; MRI; Huntington disease pre-mutations; Karaite community; HIBM; SCA; TFC; CT; Huntington disease phenocopies; Huntington disease mutation penetrance; MMSE; Movement disorder; LOTCA; HD; UHDRS; total functional capacity; magnetic resonance imaging; unified Huntington's disease rating scale; Huntington's disease; hereditary inclusion body myopathy; Loewenstein occupational therapy cognitive assessment; computerized tomography; spinocerebellar ataxias; mini-mental state examination; Human; Nervous system diseases; Huntington disease; Genetic disease; Cerebral disorder; Gene penetrance; Central nervous system disease; Degenerative disease; Mutation; Extrapyramidal syndrome

We report a cluster of patients from a Karaite Jew community with a movement disorder suggestive of Huntington disease (HD), in some cases associated with repeat lengths below the edge of 36 CAG repeats. The study describes the clinical and genetic features of four patients who were followed over se...