Top

Published in:

01-06-2017 | Letter to the Editors

Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report

Authors: Motoki Fujimaki, Kazuaki Kanai, Sayaka Funabe, Masashi Takanashi, Kazumasa Yokoyama, Yuanzhe Li, Nobutaka Hattori

Published in: Journal of Neurology | Issue 6/2017

Excerpt

Dear Sirs, …

Available only for authorised users

Watts GDJ, Wymer J, Kovach MJ et al (2004) Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 36:377–381. doi:10.1038/ng1332 CrossRefPubMed

Johnson JO, Mandrioli J, Benatar M et al (2010) Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68:857–864. doi:10.1016/j.neuron.2010.11.036 CrossRefPubMedPubMedCentral

Shi Z, Hayashi YK, Mitsuhashi S et al (2012) Characterization of the Asian myopathy patients with VCP mutations. Eur J Neurol 19:501–509. doi:10.1111/j.1468-1331.2011.03575.x CrossRefPubMed

Schröder R, Watts GDJ, Mehta SG et al (2005) Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol 57:457–461. doi:10.1002/ana.20407 CrossRefPubMed

Oba H, Yagishita A, Terada H et al (2005) New and reliable MRI diagnosis for progressive supranuclear palsy. Neurology. 64:2050–2055. doi:10.1212/01.WNL.0000165960.04422.D0 CrossRefPubMed

Quattrone A, Nicoletti G, Messina D et al (2008) MR imaging index for differentiation of progressive supranuclear palsy from Parkinson disease and the Parkinson variant of multiple system atrophy. Radiology 246:214–221. doi:10.1148/radiol.2453061703 CrossRefPubMed

Mehta SG, Khare M, Ramani R et al (2013) Genotype–phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet 83:422–431. doi:10.1111/cge.12000 CrossRefPubMed

González-Pérez P, Cirulli ET, Drory VE et al (2012) Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology 79:2201–2208. doi:10.1212/WNL.0b013e318275963b CrossRefPubMedPubMedCentral

Siuda J, Fujioka S, Wszolek ZK (2014) Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat Disord 20:957–964. doi:10.1016/j.parkreldis.2014.06.004 CrossRefPubMedPubMedCentral

10.

Chan N, Le C, Shieh P, Mozaffar T et al (2012) Valosin-containing protein mutation and Parkinson’s disease. Parkinsonism Relat Disord 18:107–109. doi:10.1016/j.parkreldis.2011.07.006 CrossRefPubMed

Title: Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report
Authors: Motoki Fujimaki
Kazuaki Kanai
Sayaka Funabe
Masashi Takanashi
Kazumasa Yokoyama
Yuanzhe Li
Nobutaka Hattori
Publication date: 01-06-2017
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 6/2017
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-017-8467-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Parkinsonism in a patient with valosin-containing protein gene mutation showing: a case report

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 6/2017

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Stroke and other cardiovascular events in patients with obstructive sleep apnea and the effect of continuous positive airway pressure

Olfactory impairment in Parkinson’s disease is a consequence of central nervous system decline

Varicella zoster virus encephalitis in a patient with a solid carcinoma: a case report

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson’s disease

Familial dysautonomia: a disease with hidden tears