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Spastic paraplegia 15, autosomal recessive

Known as: KJELLIN SYNDROME, SPG15, SPASTIC PARAPLEGIA AND RETINAL DEGENERATION 
National Institutes of Health

Related topics

Related topics

20 relations
AtaxiaAutosomal recessive inheritanceAxonal neuropathyClonus

Broader (2)

Spastic Paraplegia, HereditaryZFYVE26 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient.
Hereditary spastic paraplegia (HSP) is group of a rare neurodegenerative disorder with both genetically and clinically diverse… 
2019
2019
Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics
2018
2018
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia
ABSTRACT Aim of the study: To investigate the mutation frequency of SPG11, SPG15, SPG5 and SPG7 in China. Materials and methods… 
2016
2016
Severe axonal neuropathy is a late manifestation of SPG11
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal… 
2015
2015
SPG35 contributes to the second common subtype of AR‐HSP in China: frequency analysis and functional characterization of FA2H gene mutations
Hereditary spastic paraplegias (HSPs) encompass a clinically and genetically heterogeneous group of neurodegenerative disorders… 
2011
2011
Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation
Mutations in the SPG3A gene cause the most frequent autosomal dominant (AD) type of pure hereditary spastic paraplegia (HSP) with… 
Highly Cited
2009
Highly Cited
2009
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes… 
2009
2009
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population
Highly Cited
2001
Highly Cited
2001
SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q
The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of… 
1978
1978
Escherichia coli mutants with defects in the biosynthesis of 5-methylaminomethyl-2-thio-uridine or 1-methylguanosine in their tRNA
Two tRNA methyltransferase mutants, isolated as described in the accompanying paper (G.R. Björk and K. Kjellin-Stråby, J… 
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