Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

Monica Bandettini di Poggio; Claudia Nesti; Claudio Bruno; Maria C. Meschini; Angelo Schenone; Filippo M. Santorelli

doi:10.1186/1471-2350-14-105

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria C. Meschini, Angelo Schenone, Filippo M. Santorelli

Research output: Contribution to journal › Article › peer-review

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	https://doi.org/10.1186/1471-2350-14-105
Publication status	Published - Oct 7 2013

Keywords

Ataxia
Mitochondrial dysfunction
Parkinsonism
POLG
Progressive external ophthalmoparesis

ASJC Scopus subject areas

Genetics(clinical)
Genetics

Access to Document

10.1186/1471-2350-14-105

Fingerprint Dive into the research topics of 'Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation'. Together they form a unique fingerprint.

Cite this

@article{9665c59391df4309a0ee1048f61693f7,

title = "Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation",

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.",

keywords = "Ataxia, Mitochondrial dysfunction, Parkinsonism, POLG, Progressive external ophthalmoparesis",

author = "{Bandettini di Poggio}, Monica and Claudia Nesti and Claudio Bruno and Meschini, {Maria C.} and Angelo Schenone and Santorelli, {Filippo M.}",

year = "2013",

month = oct,

day = "7",

doi = "10.1186/1471-2350-14-105",

language = "English",

volume = "14",

journal = "BMC Medical Genetics",

issn = "1471-2350",

publisher = "BioMed Central",

number = "1",

}

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 -