Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Journal of human genetics - 1 Mar 2014

Ishiura Hiroyuki, Takahashi Yuji, Hayashi Toshihiro, Saito Kayoko, Furuya Hirokazu, Watanabe Mitsunori, Murata Miho, Suzuki Mikiya, Sugiura Akira, Sawai Setsu, Shibuya Kazumoto, Ueda Naohisa, Ichikawa Yaeko, Kanazawa Ichiro, Goto Jun, Tsuji Shoji

Abstract excerpt

Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. Because >30 causative genes have been identified, screening of multiple genes is required for establishing molecular diagnosis of individual patients with HSP. To elucidate molecular epidemiology of HSP in the Japanese...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization
Share to Demography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Molecular Epidemiology

Share to Oligonucleotide Array Sequence Analysis

Share to Sequence Deletion

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 24451228
DOI: 10.1038/jhg.2013.139

Genes

ATL1
BSCL2
HSPD1
NIPA1
PLP1
REEP1
SPAST
SPG11
SPG21
SPG7
ZFYVE27

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.PMID 24451228Read ↗

Genetic landscape of hereditary spastic paraplegias in the Korean population.Semantic proximity Read ↗

JASPAC: Japan Spastic Paraplegia Research ConsortiumSemantic proximity Read ↗

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Semantic proximity Read ↗

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.Semantic proximity Read ↗

The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.Semantic proximity Read ↗

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.Semantic proximity Read ↗

The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.Semantic proximity Read ↗

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegiaSemantic proximity Read ↗

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.Semantic proximity Read ↗

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read ↗

Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.Semantic proximity Read ↗

Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.