Familial Amyotrophic Chorea With Acanthocytosis

Gross, Kenneth B.; Skrivanek, J. A.; Carlson, Kenneth C.; Kaufman, David

doi:10.1001/archneur.1985.04210090017005

Arch Neurol

1985

DOI: 10.1001/archneur.1985.04210090017005

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Familial Amyotrophic Chorea With Acanthocytosis

Kenneth B. Gross

J. A. Skrivanek

Kenneth C. Carlson

et al.

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1986

2005

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Cited by 32 publications

References 20 publications

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Early Clinical Heterogeneity in Choreoacanthocytosis

Lossos¹,

Dobson‐Stone²,

Monaco³

et al. 2005

Arch Neurol

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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.

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Early Clinical Heterogeneity in Choreoacanthocytosis

Lossos¹,

Dobson‐Stone²,

Monaco³

et al. 2005

Arch Neurol

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Chorea‐acanthocytosis: A report of three new families and implications for genetic counselling

et al. 1987

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Chorea-acanthocytosis (CHA) is a rare inherited neurologic disorder with peripheral red cell acanthocytes and normal serum lipoprotein levels. To date, 8 families with the disorder have been reported outside of Japan. We describe 4 patients in 3 families with CHA and review the clinical presentations in previous reports. In addition, we report magnetic resonance imaging scans in these patients. The pattern of inheritance in these families is most likely autosomal recessive. Obligate heterozygotes do not have acanthocytes on wet preparation under phase microscope. Two of 3 propositi were initially diagnosed as having Huntington chorea. Chorea-acanthocytosis is an important differential in the diagnosis of Huntington chorea and should be considered in families without a family history. The paucity of families with CHA reported to date may represent lack of recognition.

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Peripheral neuropathy in amyotrophic chorea‐acanthocytosis

Vita

Serra

Dattola

et al. 1989

Annals of Neurology

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We investigated involvement of the peripheral nervous system in 6 patients with amyotrophic chorea-acanthocytosis. Electromyographic and neurographic findings, and pathological changes as demonstrated by examination of biopsy specimens of muscle and sural nerve indicate that most patients had an axonal sensorimotor polyneuropathy with more pronounced involvement of the distal portion of the nerves. Results obtained in one patient raised the question of an anterior horn cell disorder.

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Familial Amyotrophic Chorea With Acanthocytosis

Cited by 32 publications

References 20 publications

Early Clinical Heterogeneity in Choreoacanthocytosis

Early Clinical Heterogeneity in Choreoacanthocytosis

Chorea‐acanthocytosis: A report of three new families and implications for genetic counselling

Peripheral neuropathy in amyotrophic chorea‐acanthocytosis

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