POLG1-related levodopa-responsive parkinsonism

被引：29

作者：

Miguel, Rita ^{[1
]}

Gago, Miguel Fernandes ^{[2
,3
]}

Martins, Joao ^{[4
]}

Barros, Pedro ^{[5
]}

Vale, Jose ^{[6
]}

Rosas, Maria Jose ^{[7
]}

机构：

[1] Ctr Hosp Lisboa Ocidental, Dept Neurol, Hosp Egas Moniz, P-1349019 Lisbon, Portugal

[2] Ctr Hosp Alto Ave, Dept Neurol, Guimaraes, Portugal

[3] Univ Minho, Escola Ciencias Saude, Braga, Portugal

[4] Hosp Pedro Hispano, Dept Neurol, Matosinhos, Portugal

[5] Ctr Hosp Vila Nova de Gaia Espinho, Dept Neurol, Vila Nova De Gala, Portugal

[6] Hosp Beatriz Angelo, Dept Neurol, Loures, Portugal

[7] Ctr Hosp Sao Joao, Dept Neurol, Oporto, Portugal

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 2014年 / 126卷

关键词：

Parkinsonism; PEO; SANDO; DNA polymerase gamma gene; Mitochondria; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DNA POLYMERASE-GAMMA; POLG1; GENE; ALPHA-SYNUCLEIN; MUTATIONS; DELETIONS; DISEASE; ENCEPHALOMYOPATHY; INHERITANCE; SPECTRUM;

D O I：

10.1016/j.clineuro.2014.08.020

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Parkinsonian features have been described in patients with POLG1 mutations. Notwithstanding, the clinical expression has been revealed heterogeneous and the response to dopaminergic treatment has been document in few cases. We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel mutations. It was documented a sustained response to levodopa, at 3 and 8 years of follow-up of parkinsonian syndrome, and reduced striatal dopamine uptake. We review the genotypic and phenotypic spectrum of POLG1-related parkinsonism. Our observations stimulate the debate around the role of mitochondrial DNA defects in the pathogenesis of neurodegenerative parkinsonism. (C) 2014 Elsevier B.V. All rights reserved.

引用

页码：47 / 54

页数：8

共 27 条

[1] Consensus statement on the role of acute dopaminergic challenge in Parkinson's disease [J].

Albanese, A ;

Bonuccelli, U ;

Brefel, C ;

Chaudhuri, KR ;

Colosimo, C ;

Eichhorn, T ;

Melamed, E ;

Pollak, P ;

Van Laar, T ;

Zappia, M .

MOVEMENT DISORDERS, 2001, 16 (02) :197-201

[2] High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease [J].

Bender, A ;

Krishnan, KJ ;

Morris, CM ;

Taylor, GA ;

Reeve, AK ;

Perry, RH ;

Jaros, E ;

Hersheson, JS ;

Betts, J ;

Klopstock, T ;

Taylor, RW ;

Turnbull, DM .

NATURE GENETICS, 2006, 38 (05) :515-517

[3] Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions [J].

Betts-Henderson, J. ;

Jaros, E. ;

Krishnan, K. J. ;

Perry, R. H. ;

Reeve, A. K. ;

Schaefer, A. M. ;

Taylor, R. W. ;

Turnbull, D. M. .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2009, 35 (01) :120-124

[4] The unfolding clinical spectrum of POLG mutations [J].

Blok, M. J. ;

van den Bosch, B. J. ;

Jongen, E. ;

Hendrickx, A. ;

de Die-Smulders, C. E. ;

Hoogendijk, J. E. ;

Brusse, E. ;

de Visser, M. ;

Poll-The, B. T. ;

Bierau, J. ;

de Coo, I. F. ;

Smeets, H. J. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (11) :776-785

[5] Early-onset familial Parkinsonism due to POLG mutations [J].

Davidzon, G ;

Greene, P ;

Mancuso, M ;

Klos, KJ ;

Ahlskog, JE ;

Hirano, M ;

DiMauro, S .

ANNALS OF NEUROLOGY, 2006, 59 (05) :859-862

[6] Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation [J].

di Poggio, Monica Bandettini ;

Nesti, Claudia ;

Bruno, Claudio ;

Meschini, Maria Chiara ;

Schenone, Angelo ;

Santorelli, Filippo M. .

BMC MEDICAL GENETICS, 2013, 14

[7] Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism [J].

Dolhun, Rachel ;

Presant, Erin M. ;

Hedera, Peter .

BMC NEUROLOGY, 2013, 13

[8] Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations [J].

Ferreira, Mariana ;

Evangelista, Teresinha ;

Almeida, Ligia S. ;

Martins, Joao ;

Macario, Maria Carmo ;

Martins, Esmeralda ;

Moleirinho, Ana ;

Azevedo, Luisa ;

Vilarinho, Laura ;

Santorelli, Filippo M. .

NEUROMUSCULAR DISORDERS, 2011, 21 (07) :483-488

[9] SANDO: Two novel mutations in POLG1 gene [J].

Gago, Miguel Fernandes ;

Rosas, M. J. ;

Guirnaraes, Joana ;

Ferreira, Mariana ;

Vilarinho, Laura ;

Castro, Ligia ;

Carpenter, Stirling .

NEUROMUSCULAR DISORDERS, 2006, 16 (08) :507-509

[10] Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy [J].

Galassi, Giuliana ;

Lamantea, Eleonora ;

Invernizzi, Federica ;

Tavani, Federica ;

Pisano, Isabella ;

Ferrero, Ileana ;

Palmieri, Luigi ;

Zeviani, Massimo .

NEUROMUSCULAR DISORDERS, 2008, 18 (06) :465-470

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