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PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder.
- Source :
-
Parkinsonism & related disorders [Parkinsonism Relat Disord] 2019 Jul; Vol. 64, pp. 342-345. Date of Electronic Publication: 2019 Apr 01. - Publication Year :
- 2019
-
Abstract
- PNKP gene encodes for a kinase/phosphatase involved in DNA damage response, controlled and stabilized by ATM phosphorylation. PNKP deficiency, thus far described in 40 subjects, has been associated with a complex neurological phenotype encompassing microcephaly, seizures, developmental delay, ataxia, oculomotor apraxia and polyneuropathy. We report a new case expanding the clinical phenotype of this rare disorder. This 25 years old girl presented with chorea at the age of 2 years and remained stable up to the adult age when the emergence of fatigability and asthenia of lower limbs prompted a new examination disclosing a sensory-motor axonal demyelinating neuropathy. Clinical exome sequencing revealed two previously described variants in PNKP gene. This case highlights the phenotypic variability of PNKP associated disorders, showing that an early onset apparently non progressive chorea can be the presenting symptoms of this rare condition.<br /> (Copyright © 2019 Elsevier Ltd. All rights reserved.)
- Subjects :
- Adult
Chorea diagnosis
Chorea genetics
Female
Humans
Movement Disorders genetics
Phenotype
Polyneuropathies genetics
DNA Repair Enzymes deficiency
DNA Repair Enzymes genetics
Movement Disorders diagnosis
Neurodegenerative Diseases diagnosis
Phosphotransferases (Alcohol Group Acceptor) deficiency
Phosphotransferases (Alcohol Group Acceptor) genetics
Polyneuropathies diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1873-5126
- Volume :
- 64
- Database :
- MEDLINE
- Journal :
- Parkinsonism & related disorders
- Publication Type :
- Report
- Accession number :
- 30956058
- Full Text :
- https://doi.org/10.1016/j.parkreldis.2019.03.012