title: Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.
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.
authors.affiliation: Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Nicastro
authors.affiliation: Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Ranza
authors.affiliation: Division of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.|Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.|iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.affiliation: Division of Neurology, Department of Clinical Neurosciences, Geneva University Hospitals, 4, Rue Gabrielle-Perret-Gentil, 1205, Geneva, Switzerland. judit.horvath@hcuge.ch.
authors.forename: Judit
authors.initials: J
authors.lastname: Horvath
mesh_terms: D001259:Ataxia / Q000000981:diagnostic imaging / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D002526:Cerebellar Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D014202:Tremor / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: Ataxia; Cerebellar disorders; Mitochondrial disorders; Polymerase gamma