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

Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit

doi:10.1007/s12311-015-0749-6

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Title		Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation
Authors		Nicastro, Nicolas Ranza, Emmanuelle Nathalie Antonarakis, Stylianos Horvath, Judit
Published in		Cerebellum. 2016, vol. 15, no. 6, p. 829-831
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.
Identifiers		DOI: 10.1007/s12311-015-0749-6
Full text		Article (Accepted version) (428 Kb) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques
Research group		Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Citation (ISO format)		NICASTRO, Nicolas et al. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation. In: Cerebellum, 2016, vol. 15, n° 6, p. 829-831. doi: 10.1007/s12311-015-0749-6 https://archive-ouverte.unige.ch/unige:79366