Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy

K. Ramesh; S. Sharma; A. Kumar; G.S. Salomons; M.S. van der Knaap; S. Gulati

doi:10.1177/0883073812444313

Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy

K. Ramesh, S. Sharma, A. Kumar, G.S. Salomons, M.S. van der Knaap, S. Gulati

Functional Genomics

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene. © The Author(s) 2012.

Original language	English
Pages (from-to)	396-398
Journal	Journal of Child Neurology
Volume	28
Issue number	3
DOIs	https://doi.org/10.1177/0883073812444313
Publication status	Published - 2013

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title = "Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy",

abstract = "Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene. {\textcopyright} The Author(s) 2012.",

author = "K. Ramesh and S. Sharma and A. Kumar and G.S. Salomons and {van der Knaap}, M.S. and S. Gulati",

year = "2013",

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AU - Ramesh, K.

AU - Sharma, S.

AU - Kumar, A.

AU - Salomons, G.S.

AU - van der Knaap, M.S.

AU - Gulati, S.

PY - 2013

Y1 - 2013

N2 - Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene. © The Author(s) 2012.

AB - Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene. © The Author(s) 2012.

U2 - 10.1177/0883073812444313

DO - 10.1177/0883073812444313

M3 - Article

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SP - 396

EP - 398

JO - Journal of Child Neurology

JF - Journal of Child Neurology

IS - 3

ER -

Infantile-Onset Alexander Disease: A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy

Abstract

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