Top

Journal of Neurology

Published in:

01-06-2014 | Letter to the Editors

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations

Authors: Siamak Karkheiran, Catharine E. Krebs, Hossein Darvish, Mojgan Asadian, Gholam Ali Shahidi, Coro Paisán-Ruiz

Published in: Journal of Neurology | Issue 6/2014

Excerpt

Dear Sirs, …

Jankovic J (2008) Parkinson’s disease: clinical features and diagnosis. J Neurol Neurosurg Psychiatry 79:368–376CrossRefPubMed

Quinn NP, Koller WC, Lang AE, Marsden CD (1986) Painful Parkinson’s disease. Lancet 1:1366–1369CrossRefPubMed

Krebs CE, Karkheiran S, Powell JC, Cao M, Makarov V, Darvish H, Di Paolo G, Walker RH, Shahidi GA, Buxbaum JD, De Camilli P, Yue Z, Paisan-Ruiz C (2013) The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat 34:1200–1207PubMedCentralCrossRefPubMed

Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O (2012) A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 7:e36458PubMedCentralCrossRefPubMed

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C (2009) The genetics of Parkinson’s syndromes: a critical review. Curr Opin Genet Dev 19:254–265CrossRefPubMed

Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER, Oostra BA, Barone P, Wang J, Bonifati V (2013) Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism. Hum Mutat 34:1208–1215CrossRefPubMed

Koroglu C, Baysal L, Cetinkaya M, Karasoy H, Tolun A (2013) DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 19:320–324CrossRefPubMed

Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55:181–184PubMedCentralCrossRefPubMed

Karkheiran S, Hubert B, Moghaddam H, Darvish H, Paisan-Ruiz C (2013) Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia. Clin Genet 83:392–394CrossRefPubMed

10.

Darvish H, Movafagh A, Omrani MD, Firouzabadi SG, Azargashb E, Jamshidi J, Khaligh A, Haghnejad L, Naeini NS, Talebi A, Heidari-Rostami HR, Noorollahi-Moghaddam H, Karkheiran S, Shahidi GA, Paknejad SM, Ashrafian H, Abdi S, Kayyal M, Akbari M, Pedram N, Emamalizadeh B (2013) Detection of copy number changes in genes associated with Parkinson’s disease in Iranian patients. Neurosci Lett 551:75–78CrossRefPubMed

11.

Kasten M, Kertelge L, Bruggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C (2010) Nonmotor symptoms in genetic Parkinson disease. Arch Neurol 67:670–676CrossRefPubMed

12.

Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destee A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A (2003) How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 54:176–185CrossRefPubMed

13.

Srivastava A, Tang MX, Mejia-Santana H, Rosado L, Louis ED, Caccappolo E, Comella C, Colcher A, Siderowf A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Alcalay RN, Ross B, Orbe Reilly M, Rezak M, Novak K, Friedman JH, Pfeiffer RD, Marsh L, Hiner B, Merle D, Ottman R, Clark LN, Marder K (2011) The relation between depression and parkin genotype: the CORE-PD study. Parkinsonism Relat Disord 17:740–744PubMedCentralCrossRefPubMed

14.

Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A (2009) A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 72:110–116PubMedCentralCrossRefPubMed

15.

Puschmann A, Bhidayasiri R, Weiner WJ (2012) Synucleinopathies from bench to bedside. Parkinsonism Relat Disord 18(Suppl 1):S24–S27CrossRefPubMed

Title: Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations
Authors: Siamak Karkheiran
Catharine E. Krebs
Hossein Darvish
Mojgan Asadian
Gholam Ali Shahidi
Coro Paisán-Ruiz
Publication date: 01-06-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 6/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7360-5

At a glance: The STEP trials

Springer Medicine

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 6/2014

Primitive reflexes in amyotrophic lateral sclerosis: prevalence and correlates

Autonomic symptoms in idiopathic REM behavior disorder: a multicentre case–control study

A multimodal approach to understanding motor impairment and disability after stroke

Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy

A rare case of conjugal amyotrophic lateral sclerosis

Risk factors for mortality in 600 patients in vegetative and minimally conscious states