A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Identifieur interne : 001A72 ( PubMed/Checkpoint ); précédent : 001A71; suivant : 001A73A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects.
Auteurs : Tobias Warnecke [Allemagne] ; Thomas Duning ; Anja Schirmacher ; Siawoosh Mohammadi ; Wolfram Schwindt ; Hubertus Lohmann ; Rainer Dziewas ; Michael Deppe ; E Bernd Ringelstein ; Peter YoungSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution (genetics), Atrophy (genetics), Atrophy (pathology), Brain (pathology), DNA Mutational Analysis, DNA, Recombinant (genetics), Diffusion Magnetic Resonance Imaging, Electrodiagnosis, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Metalloendopeptidases (genetics), Middle Aged, Muscle Fibers, Skeletal (pathology), Neural Pathways (pathology), Neuropsychological Tests, Phenotype, Point Mutation (genetics), Spastic Paraplegia, Hereditary (genetics), Twins, Dizygotic (genetics), Twins, Monozygotic (genetics).
- MESH :
- chemical , genetics : DNA, Recombinant, Metalloendopeptidases.
- genetics : Amino Acid Substitution, Atrophy, Point Mutation, Spastic Paraplegia, Hereditary, Twins, Dizygotic, Twins, Monozygotic.
- pathology : Atrophy, Brain, Muscle Fibers, Skeletal, Neural Pathways.
- Adult, DNA Mutational Analysis, Diffusion Magnetic Resonance Imaging, Electrodiagnosis, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Middle Aged, Neuropsychological Tests, Phenotype.
Abstract
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.
DOI: 10.1002/mds.22949
PubMed: 20108356
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:20108356Le document en format XML
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<term>Atrophy (genetics)</term>
<term>Atrophy (pathology)</term>
<term>Brain (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>DNA, Recombinant (genetics)</term>
<term>Diffusion Magnetic Resonance Imaging</term>
<term>Electrodiagnosis</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Genotype</term>
<term>Humans</term>
<term>Metalloendopeptidases (genetics)</term>
<term>Middle Aged</term>
<term>Muscle Fibers, Skeletal (pathology)</term>
<term>Neural Pathways (pathology)</term>
<term>Neuropsychological Tests</term>
<term>Phenotype</term>
<term>Point Mutation (genetics)</term>
<term>Spastic Paraplegia, Hereditary (genetics)</term>
<term>Twins, Dizygotic (genetics)</term>
<term>Twins, Monozygotic (genetics)</term>
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<term>Metalloendopeptidases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Atrophy</term>
<term>Point Mutation</term>
<term>Spastic Paraplegia, Hereditary</term>
<term>Twins, Dizygotic</term>
<term>Twins, Monozygotic</term>
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<term>Brain</term>
<term>Muscle Fibers, Skeletal</term>
<term>Neural Pathways</term>
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<term>DNA Mutational Analysis</term>
<term>Diffusion Magnetic Resonance Imaging</term>
<term>Electrodiagnosis</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Genotype</term>
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<front><div type="abstract" xml:lang="en">Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.</div>
</front>
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<Abstract><AbstractText>Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. The purpose of this study was to assess the genotype and phenotype in a family with a complicated form of autosomal recessive hereditary spastic paraplegia (ARHSP). Neurological and neuropsychological evaluation, neurophysiologic studies, fiberoptic endoscopic evaluation of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed. The index case (mother) was affected by an adult-onset form of complicated ARHSP due to the homozygous splice site mutation c.1552+1 G>T in the SPG7 gene. This mutation leads to an abnormally spliced mRNA lacking exon 11. Additional clinical features were bilateral ptosis and subtle deficits in executive function. All three asymptomatic daughters carried the sequence variation c.1552+1 G>T in heterozygous state. DTI of the mother revealed disturbance of white matter (WM) integrity in the left frontal lobe, the left corticospinal tract and both sides of the brainstem. DTI of the daughters showed subtle WM alteration in the frontal corpus callosum. The novel mutation is the first splice site mutation found in the SPG7 gene. It removes part of the AAA domain of paraplegin protein, probably leading to a loss-of-function of the paraplegin-AFG3L2 complex in the mitochondrial inner membrane. The pattern of WM damage in the homozygote index case may be specific for SPG7-HSP. The detection of cerebral WM alterations in the corpus callosum of asymptomatic heterozygote carriers confirms this brain region as the most prominent and early location of fiber damage in ARHSP.</AbstractText>
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