ArticleNeurogenetics2007
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Article in Neurogenetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 41 citations in OpenAlex.
- A novel mutation inPakistan journal of medical sciences · 2024Article
- The role of autophagy-lysosomal pathway in motor neuron diseases.Biochemical Society transactions · 2022Review
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.Cells · 2022Article
- Genetic landscape of early-onset dementia in Hungary.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.Molecular genetics & genomic medicine · 2020Article
- Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.BMC neurology · 2020Article
- Genetics of Amyotrophic Lateral Sclerosis.Cold Spring Harbor perspectives in medicine · 2018Review
- ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.European journal of human genetics : EJHG · 2013Article
- Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.Journal of neurology · 2012Article
- SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.Brain : a journal of neurology · 2010Article
- Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.Neurogenetics · 2009Article
- SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.Journal of neurology · 2009Article
- Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).European journal of neurology · 2008Article
- Recent advances in the genetics of spastic paraplegias.Current neurology and neuroscience reports · 2008Review
- Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.European journal of medical geneticsArticle
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.
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