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

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.

American journal of medical genetics - 1 Aug 2002

Starling A, Rocco P, Cambi F, Hobson G M, Passos Bueno M R, Zatz M

Abstract excerpt

X-linked hereditary spastic paraplegias (HSPs) present with two distinct phenotypes: pure and complicated. The pure form is characterized by slowly progressive weakness and spasticity of the lower limbs, whereas the complicated forms have additional features (optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, epilepsy, ataxia, ichthyosis, mental retardation, and deafness). Three X-linked loci...

Read the complete abstract on PubMed

Topics

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

Share to Apoproteins
Share to Chromosomes, Human, X
Share to Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Lod Score

Share to Myelin Proteolipid Protein

Share to Polymorphism, Single-Stranded Conformational

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 12210342
DOI: 10.1002/ajmg.10551

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further evidence for a fourth gene causing X-linked pure spastic paraplegia.PMID 12210342Read ↗

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.Semantic proximity Read ↗

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.Semantic proximity Read ↗

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.Semantic proximity Read ↗

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.Semantic proximity Read ↗

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.Semantic proximity Read ↗

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.Semantic proximity Read ↗

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.Semantic proximity Read ↗

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.Semantic proximity Read ↗

A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.Semantic proximity Read ↗

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.Semantic proximity Read ↗

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.Semantic proximity Read ↗

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.Semantic proximity Read ↗

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