Primary Coenzyme Q10 Deficiency-Related Ataxias.
J Clin Med
; 13(8)2024 Apr 19.
Article
em En
| MEDLINE
| ID: mdl-38673663
ABSTRACT
Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in COQ8A), this article will review ataxias due to PCoQD.
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Revista:
J Clin Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália