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

A novel DHTKD1 gene mutation with ALS like presentation: a case report.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2024

Menon Deepak, Nashi Saraswati, Mohanty Manisha, Dubbal Rohin, Mk Farsana, Vengalil Seena, Thomas Aneesha, Kumar Vijay, Baskar Dipti, Arunachal Gautham, Nalini Atchayaram

Abstract excerpt

DHTKD1 is a nuclear gene that encodes "dehydrogenase E1 and transketolase domain-containing 1", essential in mitochondrial metabolism. First identified in the patients of 2-amino-apidic and 2 oxoapidic aciduria, mutation in this gene has recently been implicated in CMT2Q and ALS. Here we report the case of a septuagenarian who presented with a 2 years progressive history of respiratory and neck muscle weakness...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ketone Oxidoreductases

Share to Mitochondria

Share to Mutation

Source

Identifiers

PMID: 37880984
DOI: 10.1080/21678421.2023.2273366

Genes

DHTKD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A novel DHTKD1 gene mutation with ALS like presentation: a case report.PMID 37880984Read ↗

Catatonia and Mitochondrial Dysfunction in a Young Female with MT-ND3 Mutation: A Case Report and Literature ReviewSemantic proximity Read ↗

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.Semantic proximity Read ↗

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.Semantic proximity Read ↗

Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.Semantic proximity Read ↗

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.Semantic proximity Read ↗

Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes.Semantic proximity Read ↗

Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality.Semantic proximity Read ↗

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.Semantic proximity Read ↗

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.Semantic proximity Read ↗

[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].Semantic proximity Read ↗

DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.Semantic proximity Read ↗

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.Semantic proximity Read ↗

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