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

X-linked congenital ataxia: a clinical and genetic study.

American journal of medical genetics - 1 May 2000

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J

Abstract excerpt

We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular disease, mental retardation, and pyramidal tract involvement. Neuroimaging showed global cerebellar atrophy in both...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia
Share to Brain
Share to DNA

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

Share to Family Health

Share to Genetic Linkage

Share to Magnetic Resonance Imaging

Share to Microsatellite Repeats

Share to X Chromosome

Source

Identifiers

PMID: 10797423

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked congenital ataxia: a clinical and genetic study.PMID 10797423Read ↗

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.Semantic proximity Read ↗

X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.Semantic proximity Read ↗

[A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)].Semantic proximity Read ↗

X-linked myoclonic epilepsy with spasticity and intellectual disabilitySemantic proximity Read ↗

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.Semantic proximity Read ↗

Linkage analysis of two families with X-linked recessive congenital motor nystagmus.Semantic proximity Read ↗

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.Semantic proximity Read ↗

[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].Semantic proximity Read ↗

Novel syndromic form of X-linked complicated spastic paraplegiaSemantic proximity Read ↗

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study.Semantic proximity Read ↗

New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.Semantic proximity Read ↗

Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.Semantic proximity Read ↗

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