Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Nicole I. Wolf; Maria Cundall; Paul Rutland; Elisabeth Rosser; Robert Surtees; Sarah Benton; Wui K. Chong; Sue Malcolm; Friedrich Ebinger; Maria Bitner-Glindzicz; Karen J. Woodward

doi:https://doi.org/10.1007/s10048-006-0062-0

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Nicole I. Wolf, Maria Cundall, Paul Rutland, Elisabeth Rosser, Robert Surtees, Sarah Benton, Wui K. Chong, Sue Malcolm, Friedrich Ebinger, Maria Bitner-Glindzicz, Karen J. Woodward

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

37 Citations (Scopus)

Abstract

Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neuropathy. Magnetic resonance imaging (MRI) of both children showed progressive demyelination in addition to dysmyelination, and also characteristic brainstem abnormalities. In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive.

Original language	English
Pages (from-to)	39-44
Number of pages	6
Journal	Neurogenetics
Volume	8
Issue number	1
DOIs	https://doi.org/10.1007/s10048-006-0062-0
Publication status	Published - Jan 2007

Keywords

Ataxia
Leukencephalopathy
Neuropathy
Nystagmus
Pelizaeus-Merzbacher disease

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title = "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination",

abstract = "Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neuropathy. Magnetic resonance imaging (MRI) of both children showed progressive demyelination in addition to dysmyelination, and also characteristic brainstem abnormalities. In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive.",

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AU - Wolf, Nicole I.

AU - Cundall, Maria

AU - Rutland, Paul

AU - Rosser, Elisabeth

AU - Surtees, Robert

AU - Benton, Sarah

AU - Chong, Wui K.

AU - Malcolm, Sue

AU - Ebinger, Friedrich

AU - Bitner-Glindzicz, Maria

AU - Woodward, Karen J.

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AB - Mutations in GJA12 have been shown to cause Pelizaeus-Merzbacher-like disease (PMLD). We present two additional patients from one family carrying a homozygous frameshift mutation in GJA12. Both presented initially with nystagmus. The older girl developed ataxia first, then progressive spastic ataxia. The younger boy suffered from severe sensory neuropathy. Magnetic resonance imaging (MRI) of both children showed progressive demyelination in addition to dysmyelination, and also characteristic brainstem abnormalities. In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive.

KW - Ataxia

KW - Leukencephalopathy

KW - Neuropathy

KW - Nystagmus

KW - Pelizaeus-Merzbacher disease

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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

Abstract

Keywords

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