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Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela, Mateusz; Rydzanicz, Malgorzata; Szymanska, Krystyna; Pieniawska-Smiech, Karolina; Lewandowicz-Uszynska, Aleksandra; Chruszcz, Joanna; Benben, Lucyna; Kuzior-Plawiak, Malgorzata; Szyld, Pawel; Jakubiak, Aleksandra; Szenborn, Leszek; Ploski, Rafal; Smigiel, Robert.
Afiliação
  • Biela M; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Szymanska K; Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  • Pieniawska-Smiech K; Department of Clinical Immunology, Wroclaw Medical University, Wroclaw, Poland.
  • Lewandowicz-Uszynska A; Third Department and Clinic of Pediatrics, Immunology and Rheumatology of Developmental Age, Wroclaw Medical University, Wroclaw, Poland.
  • Chruszcz J; Department of Paediatrics and Infectious Diseases, Wroclaw Medical University, Wroclaw, Poland.
  • Benben L; Department of Paediatric Neurology, J. Gromkowski Regional Specialist Hospital, Wroclaw, Poland.
  • Kuzior-Plawiak M; Department of Paediatric Neurology, J. Gromkowski Regional Specialist Hospital, Wroclaw, Poland.
  • Szyld P; Cancer Genetics Unit Cancer Prevention Department, The Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
  • Jakubiak A; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Szenborn L; Department of Paediatrics and Infectious Diseases, Wroclaw Medical University, Wroclaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Smigiel R; Department of Pediatrics, Division Pediatric Propedeutics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
Mol Genet Genomic Med ; 9(9): e1772, 2021 09.
Article em En | MEDLINE | ID: mdl-34342181
ABSTRACT

BACKGROUND:

Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype-phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756-two acronyms are proposed for the moment-FIPWE (fever-induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia). MATERIALS AND

METHODS:

Herein, we are describing two new pediatric cases with a p.Arg756His change in the ATP1A3 gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty-three cases from literature were analyzed to define and strengthen the genotype-phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu).

CONCLUSIONS:

Patients with a ATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Cerebelar / ATPase Trocadora de Sódio-Potássio Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Fenótipo / Ataxia Cerebelar / ATPase Trocadora de Sódio-Potássio Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia