Format

Send to

Choose Destination
Cerebellum. 2016 Dec;15(6):829-831.

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Author information

1
Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.
2
Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
3
Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
4
iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.
5
Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland. judit.horvath@hcuge.ch.

Abstract

Progressive ataxia with palatal tremor (PAPT) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. Etiologies include acquired posterior fossa lesions (e.g. tumors, superficial siderosis, and inflammatory diseases) and genetic disorders, such as glial fibrillary acidic protein (GFAP) and polymerase gamma (POLG) mutations. We describe the case of a 52-year-old man who developed pure progressive ataxia and palatal tremor. Genetic analysis has shown that he is compound heterozygote for a known pathogenic (W748S) and a novel POLG variant (I1185N). Patients with POLG recessive mutations usually manifest a more complex clinical picture, including polyneuropathy and epilepsy; our case emphasizes the need to consider a genetic origin in a seemingly sporadic and pure PAPT.

KEYWORDS:

Ataxia; Cerebellar disorders; Mitochondrial disorders; Polymerase gamma

PMID:
26607151
DOI:
10.1007/s12311-015-0749-6
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center