Back to Search
Start Over
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
- Source :
- Neurology, Neurology, 92, e2679-e2690, Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩, Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606, Neurology, 92, 23, pp. e2679-e2690, Neurology, 92 (23
- Publication Year :
- 2019
-
Abstract
- Objective: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). Methods: We analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically. Results: Patients with SPG7 had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05), and sphincter dysfunction (p < 0.05) than those with a shorter duration (<br />SCOPUS: ar.j<br />info:eu-repo/semantics/published
- Subjects :
- 0301 basic medicine
Male
physiopathology [Paraplegia]
Gastroenterology
Cohort Studies
genetics [Metalloendopeptidases]
0302 clinical medicine
Loss of Function Mutation
Spastic
genetics [ATPases Associated with Diverse Cellular Activities]
genetics [Cerebellar Ataxia]
Metalloendopeptidases
Sensory loss
Middle Aged
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Magnetic Resonance Imaging
genetics [European Continental Ancestry Group]
Phenotype
Cohort
Female
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
medicine.symptom
physiopathology [Cerebellar Ataxia]
Paraplegia
Adult
medicine.medical_specialty
Ataxia
Cerebellar Ataxia
genetics [White People]
SPG7 protein, human
Polymorphism, Single Nucleotide
Article
White People
genetics [Paraplegia]
03 medical and health sciences
Young Adult
Atrophy
Neurologie
Internal medicine
genetics [Spastic Paraplegia, Hereditary]
physiopathology [Spastic Paraplegia, Hereditary]
medicine
Humans
Spasticity
ddc:610
Cerebellar ataxia
business.industry
Electromyography
Spastic Paraplegia, Hereditary
medicine.disease
030104 developmental biology
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
ATPases Associated with Diverse Cellular Activities
Neurology (clinical)
Human medicine
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....ad13a0fe5a53812528a1024662571ae0
- Full Text :
- https://doi.org/10.1212/WNL.0000000000007606⟩