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Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano, Sho T; Silver, Kenneth; Young, Richard; DeBrosse, Suzanne D; Ebel, Roseànne S; Swoboda, Kathryn J; Acsadi, Gyula.
Afiliação
  • Yano ST; Section of Pediatric Neurology, Comer Children's Hospital, University of Chicago, Chicago, Illinois. Electronic address: sho.yano@uchospitals.edu.
  • Silver K; Section of Pediatric Neurology, Comer Children's Hospital, University of Chicago, Chicago, Illinois.
  • Young R; Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut, Hartford, Connecticut.
  • DeBrosse SD; Department of Genetics and Genome Sciences, Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, Ohio.
  • Ebel RS; Department of Genetics and Genome Sciences, Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, Ohio.
  • Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • Acsadi G; Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut, Hartford, Connecticut.
Pediatr Neurol ; 73: 101-105, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28647130
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants. RESULTS: Patients with ATP1A3 R756H have onset in childhood of infrequent, fever-triggered paroxysms of encephalopathy and weakness with slowly improving but persistent deficits. Motor findings of weakness are mostly generalized, and patients may also have bulbar or oculomotor problems. Longer-term outcomes range from mild motor apraxia with near-normal function to persistent dysphagia, dysarthria, cognitive deficit, motor apraxia, and inability to walk because of ataxia. Patients with ATP1A3 R756L have a similar phenotype that includes paroxysmal, stepwise progression of ataxia associated with infections. CONCLUSIONS: ATP1A3 mutations affecting residue 756 result in a clinical syndrome, separate from those associated with previously described ATP1A3 mutations, which consists chiefly of fever-induced paroxysmal weakness and encephalopathy (FIPWE). Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome previously described in a patient with the c.2266C>T (R756C) mutation. All patients reported with mutations at residue 756 to date have had a similar episodic course and clinical features. Patients with mutations of ATP1A3 residue 756 appear to have a distinct clinical phenotype compared with patients with other ATP1A3 mutations, with fever-induced encephalopathy as key differentiating feature.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / ATPase Trocadora de Sódio-Potássio / Debilidade Muscular / Febre / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / ATPase Trocadora de Sódio-Potássio / Debilidade Muscular / Febre / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Pediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos