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

SPG11: clinical and genetic features of seven Czech patients and literature review.

Neurological research - 1 May 2022

Doleckova Kristyna, Roth Jan, Stellmachova Julia, Gescheidt Tomas, Sigut Vladimir, Houska Pavel, Jech Robert, Zech Michael, Vyhnalek Martin, Vyhnalkova Emilie, Seeman Pavel, Meszarosova Anna Uhrova

Abstract excerpt

SPG11 is one of the most frequent autosomal recessively inherited types of hereditary spastic paraplegias (HSP or SPG). We describe the first seven patients from the Czech Republic with biallelic pathogenic variants in the SPG11. The typical HSP neurological findings are present in all the described patients in that the signs of a complicated phenotype develop slowly. The speed of disease progression, and the...

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 Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 35254204
DOI: 10.1080/01616412.2021.1975224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SPG11: clinical and genetic features of seven Czech patients and literature review.PMID 35254204Read ↗

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.Semantic proximity Read ↗

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.Semantic proximity Read ↗

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Semantic proximity Read ↗

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.Semantic proximity Read ↗

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.Semantic proximity Read ↗

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

Novel SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum.Semantic proximity Read ↗

Genetics of hereditary spastic paraplegias.Semantic proximity Read ↗

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.Semantic proximity Read ↗

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