Archives of neurology · 2005
Early clinical heterogeneity in choreoacanthocytosis.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Lossos Alexander, Dobson-Stone Carol, Monaco Anthony P, Soffer Dov, Rahamim Ezra, Newman J P, Mohiddin Saidi, Fananapazir Lameh, Lerer Israela, Linetsky Eduard, Reches Avinoam, Argov Zohar, Abramsky Oded, Gadoth Natan, Sadeh Menachem, Gomori John M, Boher Moshe, Meiner Vardiella
Аннотация
BACKGROUND: Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene.
OBJECTIVE: To describe the early clinical features and possible genotype-phenotype correlation in CHAC.
DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS AND MAIN OUTCOME METHODS: Choreoacanthocytosis was diagnosed in 3 patients of Jewish origin from 3 unrelated families. We reviewed their medical histories and performed molecular analysis by screening all 73 exons of VPS13A.
RESULTS: Trichotillomania, hypertrophic cardiomyopathy, and idiopathic hyperCKemia, in 1 patient each, preceded the development of the full clinical spectrum of CHAC by 2 to 20 years. At diagnosis, 2 patients manifested signs of overt neuromuscular involvement and were homozygous for the 6059delC mutation, whereas 1 patient had only hyporeflexia and was homozygous for the EX23del mutation. Because only 1 of the 2 patients with 6059delC had cardiomyopathy, its relevance to CHAC is unclear.
CONCLUSIONS: These findings extend the knowledge of significant early clinical heterogeneity in CHAC and suggest a possible genotype-phenotype correlation. Awareness of the early manifestations may prevent misdiagnosis and enable appropriate genetic counseling.
OBJECTIVE: To describe the early clinical features and possible genotype-phenotype correlation in CHAC.
DESIGN AND SETTING: Case series in a tertiary care center. PATIENTS AND MAIN OUTCOME METHODS: Choreoacanthocytosis was diagnosed in 3 patients of Jewish origin from 3 unrelated families. We reviewed their medical histories and performed molecular analysis by screening all 73 exons of VPS13A.
RESULTS: Trichotillomania, hypertrophic cardiomyopathy, and idiopathic hyperCKemia, in 1 patient each, preceded the development of the full clinical spectrum of CHAC by 2 to 20 years. At diagnosis, 2 patients manifested signs of overt neuromuscular involvement and were homozygous for the 6059delC mutation, whereas 1 patient had only hyporeflexia and was homozygous for the EX23del mutation. Because only 1 of the 2 patients with 6059delC had cardiomyopathy, its relevance to CHAC is unclear.
CONCLUSIONS: These findings extend the knowledge of significant early clinical heterogeneity in CHAC and suggest a possible genotype-phenotype correlation. Awareness of the early manifestations may prevent misdiagnosis and enable appropriate genetic counseling.
Предметные рубрики MeSH
AdultAge of OnsetChoreaChromosomes, Human, Pair 9DNA Mutational AnalysisDiagnostic ErrorsDisease ProgressionExonsFemaleGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingGenotypeHeredodegenerative Disorders, Nervous SystemHomozygoteHumansMaleMuscle, SkeletalMutationPhenotypePredictive Value of TestsProteinsVesicular Transport Proteins