NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Klebe, Stephan; Lacour, Arnaud; Dürr, Alexandra; Stojkovic, Tanya; Depienne, Christel; Forlani, Sylvie; Poëa-Guyon, Sandrine; Vuillaume, Isabelle; Sablonnière, Bernard; Vermersch, Patrick; Brice, Alexis; Stevanin, Giovanni

doi:10.1007/s10048-006-0074-9

Cited by 24 publications

(36 citation statements)

References 6 publications

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“…In addition, mutations in KIF5A / SPG10 (MIM# 604187) and SLC33A1 / SPG42 (MIM# 612539) had been excluded by direct sequencing in 149 of the selected patients [Goizet et al, 2009b;Schlipf et al, 2010]. A subset of 26 patients with a compatible phenotype was also excluded for mutations in BSCL2 / SPG17 (MIM# 270685) (unpublished data) and 64 probands were excluded for mutations in NIPA1 / SPG6 [Klebe et al, 2007].…”

Section: Subjectsmentioning

confidence: 99%

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Goizet¹,

Depienne

Bénard³

et al. 2011

Hum. Mutat.

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Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= 5/11 patients) including a Silver-like syndrome in one patient, and less frequently cerebellar ataxia, tremor, dementia. Interestingly, we evidenced abnormal mitochondrial network organization in fibroblasts of one patient in addition to defective mitochondrial energy production in both fibroblasts and muscle, but whether these anomalies are directly or indirectly related to the mutations remains uncertain.

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Section: Subjectsmentioning

confidence: 99%

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Goizet¹,

Depienne

Bénard³

et al. 2011

Hum. Mutat.

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Section: Spg6 (Nipa1)mentioning

confidence: 99%

“…In the literature, less than 20 pedigrees with NIPA1 mutations have been reported with a worldwide distribution [65][66][67][68] . The mean age at onset varies between early childhood and late adulthood 65 . Most of the patients have a pure phenotype with a slow disease progression 65,69 but an intrafamilial clinical heterogeneity also exists for this HSP subtype 65,69 .…”

Section: Spg6 (Nipa1)mentioning

confidence: 99%

“…Mutations in NIPA1 are a rare cause (<1%) of ADHSP 64,65 . In the literature, less than 20 pedigrees with NIPA1 mutations have been reported with a worldwide distribution [65][66][67][68] .…”

Section: Spg6 (Nipa1)mentioning

confidence: 99%

“…The mean age at onset varies between early childhood and late adulthood 65 . Most of the patients have a pure phenotype with a slow disease progression 65,69 but an intrafamilial clinical heterogeneity also exists for this HSP subtype 65,69 . In some families, a mild memory deficit has been reported.…”

Section: Spg6 (Nipa1)mentioning

confidence: 99%

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Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

2015

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Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

Brugman¹,

Veldink²,

Franssen³

et al. 2009

Arch Neurol

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NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Cited by 24 publications

References 6 publications

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

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