Abstract
Background: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.Case presentation: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.Conclusion: This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
| Original language | English |
|---|---|
| Article number | 105 |
| Journal | BMC Medical Genetics |
| Volume | 14 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Oct 7 2013 |
Fingerprint
Keywords
- Ataxia
- Mitochondrial dysfunction
- Parkinsonism
- POLG
- Progressive external ophthalmoparesis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation. / Bandettini di Poggio, Monica; Nesti, Claudia; Bruno, Claudio; Meschini, Maria C.; Schenone, Angelo; Santorelli, Filippo M.
In: BMC Medical Genetics, Vol. 14, No. 1, 105, 07.10.2013.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation
AU - Bandettini di Poggio, Monica
AU - Nesti, Claudia
AU - Bruno, Claudio
AU - Meschini, Maria C.
AU - Schenone, Angelo
AU - Santorelli, Filippo M.
PY - 2013/10/7
Y1 - 2013/10/7
N2 - Background: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.Case presentation: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.Conclusion: This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
AB - Background: Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.Case presentation: Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.Conclusion: This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
KW - Ataxia
KW - Mitochondrial dysfunction
KW - Parkinsonism
KW - POLG
KW - Progressive external ophthalmoparesis
UR - http://www.scopus.com/inward/record.url?scp=84885002464&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84885002464&partnerID=8YFLogxK
U2 - 10.1186/1471-2350-14-105
DO - 10.1186/1471-2350-14-105
M3 - Article
C2 - 24099403
AN - SCOPUS:84885002464
VL - 14
JO - BMC Medical Genetics
JF - BMC Medical Genetics
SN - 1471-2350
IS - 1
M1 - 105
ER -