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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.
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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. https://archive-ouverte.unige.ch/unige:79366

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Deposited on : 2016-01-15

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