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Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne, Wendy J; Westbroek, Wendy; Groden, Catherine A; Bhambhani, Vikas; Golas, Gretchen A; Baker, Eva H; Lehky, Tanya J; Snow, Joseph; Ziegler, Shira G; Malicdan, May Christine V; Adams, David R; Dorward, Heidi M; Hess, Richard A; Huizing, Marjan; Gahl, William A; Toro, Camilo.
Afiliação
  • Introne WJ; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Westbroek W; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Groden CA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Bhambhani V; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Golas GA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Baker EH; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Lehky TJ; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Snow J; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Ziegler SG; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Malicdan MC; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Adams DR; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Dorward HM; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Hess RA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Huizing M; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Gahl WA; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
  • Toro C; From the Office of the Clinical Director (W.J.I., C.A.G., V.B., G.A.G., W.A.G., C.T.) and Human Biochemical Genetics Section, Medical Genetics Branch (W.W., S.G.Z., M.C.V.M. D.R.A., H.M.D., R.A.H., M.H., W.A.G.), National Human Genome Research Institute, Department of Radiology and Imaging Sciences,
Neurology ; 88(7): e57-e65, 2017 02 14.
Article em En | MEDLINE | ID: mdl-28193763
OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation. RESULTS: In 9 mildly affected patients with CHD, we documented learning and behavioral difficulties along with developmental structural abnormalities of the cerebellum and posterior fossa, which are apparent early in childhood. A range of progressive neurologic problems emerge in early adulthood, including cerebellar deficits, polyneuropathies, spasticity, cognitive decline, and parkinsonism. CONCLUSIONS: Patients with undiagnosed atypical CHD manifesting some of these wide-ranging yet nonspecific neurologic complaints may reside in general and specialty neurology clinics. The absence of the typical bleeding or infectious diathesis in mildly affected patients with CHD renders them difficult to diagnose. Identification of these individuals is important not only for close surveillance of potential CHD-related systemic complications but also for a full understanding of the natural history of CHD and the potential role of the disease-causing protein, LYST, to the pathophysiology of other neurodevelopmental and neurodegenerative disorders.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Neurology Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Neurology Ano de publicação: 2017 Tipo de documento: Article