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

High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegia

12 Oct 2006

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE: To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant HSP. METHODS: We...

Read the complete abstract on PubMed

Topics

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

Share to Botulinum Toxin and Related Neurological Disorders
Share to Hereditary Neurological Disorders
Share to Peripheral Neuropathies and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17035675
DOI: 10.1212/01.wnl.0000244413.49258.f5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High frequency of partial <i>SPAST</i> deletions in autosomal dominant hereditary spastic paraplegiaPMID 17035675Read ↗

Exon deletions of <i>SPG4</i> are a frequent cause of hereditary spastic paraplegiaSemantic proximity Read ↗

Novel and recurrent spastin mutations in a large series of SPG4 Italian families.Semantic proximity Read ↗

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.Semantic proximity Read ↗

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.Semantic proximity Read ↗

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.Semantic proximity Read ↗

SPAST mutations in Australian patients with hereditary spastic paraplegia.Semantic proximity Read ↗

Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.Semantic proximity Read ↗

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.Semantic proximity Read ↗

Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.Semantic proximity Read ↗

Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Semantic proximity Read ↗

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.Semantic proximity Read ↗

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