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

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Annals of neurology - 1 Sept 2009

Spiegel Ronen, Shaag Avraham, Edvardson Simon, Mandel Hanna, Stepensky Polina, Shalev Stavit A, Horovitz Yoseph, Pines Ophry, Elpeleg Orly

Abstract excerpt

Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondri...

Read the complete abstract on PubMed

Topics

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

Share to Basal Ganglia Diseases
Share to Corpus Striatum
Share to Functional Laterality

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Transport Proteins

Share to Microcephaly

Share to Mitochondrial Membrane Transport Proteins

Share to Necrosis

Share to Polyneuropathies

Source

Identifiers

PMID: 19798730
DOI: 10.1002/ana.21752

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19798730-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.PMID 19798730Read ↗

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.Semantic proximity Read ↗

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.Semantic proximity Read ↗

Thiamine metabolism dysfunction syndrome type IV without encephalopathy: an atypical presentationSemantic proximity Read ↗

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.Semantic proximity Read ↗

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.Semantic proximity Read ↗

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.Semantic proximity Read ↗

Mutant deoxynucleotide carrier is associated with congenital microcephaly.Semantic proximity Read ↗

Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families.Semantic proximity Read ↗

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.Semantic proximity Read ↗

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.Semantic proximity Read ↗

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.Semantic proximity Read ↗

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