ArticleJournal of neurology2013
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
Article in Journal of neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.BMC musculoskeletal disorders · 2025Article
- Screening forFrontiers in neurology · 2020Article
- Defined Culture Conditions Accelerate Small-molecule-assisted Neural Induction for the Production of Neural Progenitors from Human-induced Pluripotent Stem Cells.Cell transplantation · 2017Article
- Clinical features and genotype-phenotype correlation analysis in patients withTranslational neurodegeneration · 2017Article
- Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.Medicine · 2017Review
- Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.Annals of neurology · 2015Article
- Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Human molecular genetics · 2014Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.
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