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

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.

Neuroscience letters - 16 Mar 2020

Meszarosova Anna Uhrova, Seeman Pavel, Jencik Jan, Drabova Jana, Cibochova Renata, Stellmachova Julia, Safka Brozkova Dana

Abstract excerpt

Hereditary spastic paraplegia (HSP or SPG) is a group of rare upper motor neuron diseases. As some ethnically-specific, disease-causing homozygous variants were described in the Czech Roma population, we hypotesised that some prevalent HSP-causing variant could exist in this population. Eight Czech Roma patients were found in a large group of Czech patients with suspected HSP and were tested using gene panel...

Read the complete abstract on PubMed

Topics

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

Share to Czech Republic
Share to Ethnicity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Mitochondrial Proteins

Share to Pedigree

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 32007496
DOI: 10.1016/j.neulet.2020.134800

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.PMID 32007496Read ↗

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

Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.Semantic proximity Read ↗

SPG11--the most common type of recessive spastic paraplegia in Norway?Semantic proximity Read ↗

Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor DisorderSemantic proximity Read ↗

SPG11: clinical and genetic features of seven Czech patients and literature review.Semantic proximity Read ↗

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.Semantic proximity Read ↗

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencingSemantic proximity Read ↗

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.Semantic proximity Read ↗

[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].Semantic proximity Read ↗

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.Semantic proximity Read ↗

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).Semantic proximity Read ↗

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.Semantic proximity Read ↗

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