Hereditary Neurological Disease With Acanthocytosis

Levine, Irving

doi:10.1001/archneur.1968.00480040069007

Cited by 134 publications

(65 citation statements)

References 3 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…ChAc is an autosomal recessive condition, although autosomal dominant transmission has been reported. 1,4,5 The onset of neurological symptoms is usually delayed until 25 -45 years of age and the disease follows a progressive course. 3 There is as yet no effective long-term treatment for this disorder.…”

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

View full text Add to dashboard Cite

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/ deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

show abstract

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

View full text Add to dashboard Cite

show abstract

“…It is a later understood disease. Described by by Levine in1960 and also first reported by Critchley [4,5] . NA mainly affects children and young adults.…”

Section: Discussionmentioning

confidence: 85%

Chorea-acanthocytosis:Report of 1 case

2016

Genes Transl Bioinform

View full text Add to dashboard Cite

To report one case of chorea-acanthocytosis (ChAc). The case study was done using indicators such as signs, clinical symptoms, biochemical markers, red blood cell morphology and gene sequencing observation. The patient's main signs and symptoms were mouth-tongue dystonia, tongue biting, abnormal gait, seizures, decreased gag reflex, decreased muscle tone, decreased tendon reflex. Blood lactate dehydrogenase (LDH, 459 U/L), creatine kinase (CK, 2806U/L), prolactin (PRL, 38.35ng/ml) were increased. There was a large number of acanthocyte in blood smear (50% of the red blood cell), and there were lots of acanthocytes in the blood smear of her parents (30% of father and 25% of mother). Electromyography showed peripheral nerve damage. Brain MRI scan showed caudate nucleus atrophy. Gene sequencing detected mutations in VPS13A. The following clinical features of the patient was used to diagnose the patient of ChAc: blood LDH, CK, PRL, blood smear, brain MRI imaging characteristics, gene sequencing result. There is limitation in the treatment of the disease. Hence there is the need for monitoring and exploration of effective methods of diagnosis and treatment.

show abstract

“…Suas primeiras descrições datam da década de 1960 quando Levine, em New England (1960), e Critchley, em Kentucky (1968), descreveram famílias nas quais a acantocitose estava associada a padrão lipoproteico normal e a quadro neurológico típico 2,3 . Entretanto, estes não foram os primeiros relatos de doença neurológica associada a acantocitose.…”

Section: Discussão Discussão Discussão Discussão Discussãounclassified

“…Esta alteração poderia ser especialmente deletéria nos eritrócitos e nos neurônios estriatais. Teoria semelhante era proposta por Levine et al 2 já em 1968, ao afirmarem que "é muito provável que tanto as manifestações do sistema nervoso quanto as alterações nas hemácias sejam expressões de anormalidades em sistemas enzimáticos básicos transmitidos como herança autossômica dominante" (a família relatada pelo autor em 1968 apresentava distúrbios do movimento associados à acantocitose transmitidos como padrão autossômico dominante. Em sua maioria, os relatos subsequentes apresentaram padrão autossômico recessivo).…”

Section: Tabela 1 Principais Características Clínicas E Laboratoriaiunclassified

Neuroacantocitose: relato de caso

Troiano¹,

Trevisol-Bittencourt

1999

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

RESUMO -Relatamos o caso de um paciente de 45 anos com neuroacantocitose. O paciente apresenta crises parciais complexas com automatismos e crises generalizadas tônico-clônicas, assim como distúrbios do movimento caracterizados por coréia do tronco e membros superiores, e discinesia orofacial. Os exames complementares revelam acantocitose de 11%, eletrencefalograma com foco irritativo no lobo temporal direito, creatino fosfoquinase sérica de 101 U/L e imagem de ressonância magnética com redução volumétrica e hiper-intensidade do sinal no núcleo caudado e putâmen bilateralmente.PALAVRAS-CHAVE: acantocitose, distúrbios do movimento, epilepsia. Neuroacanthocytosis: a case reportABSTRACT -We present a 45 years old man with neuroacanthocytosis. This gentleman has complex partial seizures and generalized tonic-clonic seizures, as well as movement disorders characterized by chorea and orofacial diskinesia. Complementary examination shows acanthocytosis of 11% on peripheral blood, irritative focus on right temporal lobe on EEG, serum creatinokinase of 101 U/l and volume reduction and hypersignal on caudate nucleus and putamen bilaterally on MRI.KEY WORDS: acanthocytosis, movement disorders, epilepsy.A neuroacantocitose (NA) é distúrbio neurológico no qual manifestações extrapiramidais, amiotrofia e epilepsia associam-se frequentemente à presença de hemácias espiculadas, denominadas acantócitos, no sangue periférico. Trata-se de enfermidade rara, provavelmente subdiagnosticada, havendo poucos casos relatados na literatura médica. Relatamos o exame clínico, a complementação diagnóstica laboratorial e de imagem, o tratamento e a evolução clínica de paciente com diagnóstico de NA. REL REL REL REL RELA A AA ATO DO CASO TO DO CASO TO DO CASO TO DO CASO TO DO CASO JAM, 45 anos, branco, casado, origem açoriana, natural de Biguaçu e procedente de Palhoça, ambos municípios situados na região metropolitana de Florianópolis, frentista aposentado. 1 Este paciente era assintomático até os 6 anos de idade, quando apresentou uma crise generalizada tônico-clônica (CGTC). Aos dezesseis anos repetiu crise com padrão idêntico. Nega uso de qualquer medicação entre estes dois episódios. A partir deste último, o sintoma passou a ser recorrente. Além disso, seus ataques passaram a ter nuances diferentes dois tipos distintos de crises epiléticas sendo identificados. A primeira modalidade, descrita por ele e seus familiares

show abstract

Hereditary Neurological Disease With Acanthocytosis

Abstract: Report of CasesThe proband, (Fig 1)

Cited by 134 publications

References 3 publications

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Chorea-acanthocytosis:Report of 1 case

Neuroacantocitose: relato de caso

Contact Info

Product

Resources

About