GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

نویسندگان

  • Ziv Gan-Or
  • Anat Mirelman
  • Ronald B Postuma
  • Isabelle Arnulf
  • Anat Bar-Shira
  • Yves Dauvilliers
  • Alex Desautels
  • Jean-François Gagnon
  • Claire S Leblond
  • Birgit Frauscher
  • Roy N Alcalay
  • Rachel Saunders-Pullman
  • Susan B Bressman
  • Karen Marder
  • Christelle Monaca
  • Birgit Högl
  • Avi Orr-Urtreger
  • Patrick A Dion
  • Jacques Y Montplaisir
  • Nir Giladi
  • Guy A Rouleau
چکیده

Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson's disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (n = 120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Prodromal Parkinsonism and Neurodegenerative Risk Stratification in REM Sleep Behavior Disorder

Objectives Rapid eye movement (REM) sleep behavior disorder (RBD) is the most specific marker of prodromal alpha-synucleinopathies. We sought to delineate the baseline clinical characteristics of RBD and evaluate risk stratification models. Methods Clinical assessments were performed in 171 RBD, 296 control, and 119 untreated Parkinson's (PD) participants. Putative risk measures were assessed...

متن کامل

Sleep aspects on video-polysomnography in LRRK2 mutation carriers.

BACKGROUND Rapid eye movement sleep behavior disorder and sleepiness precede or accompany idiopathic Parkinson's disease (PD), but their presence in subjects with leucine-rich repeat kinase 2 mutations is unknown. METHODS Ten patients with leucine-rich repeat kinase 2-associated PD, four healthy leucine-rich repeat kinase 2 mutation carriers, 20 patients with idiopathic PD, and 12 healthy con...

متن کامل

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

IMPORTANCE Numerically, the most important genetic risk factor for the development of Parkinson disease (PD) is the presence of a glucocerebrosidase gene (GBA) mutation. OBJECTIVE To evaluate longitudinally and clinically a GBA mutation-positive cohort and the evolution of the prodromal features of PD. DESIGN, SETTING, AND PARTICIPANTS Participants in a study of the etiology and prodrome of...

متن کامل

PREDICT‐PD: An online approach to prospectively identify risk indicators of Parkinson's disease

BACKGROUND A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidas...

متن کامل

Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred.

BACKGROUND Rapid eye movement sleep behavior disorder (RBD) is a parasomnia that is manifested by dream enactment behavior. The electrophysiologic substrate for RBD on polysomnography is rapid eye movement sleep without atonia. Rapid eye movement sleep behavior disorder likely stems from neuronal network dysfunction in the brainstem, although it is not yet clear which specific networks are invo...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 2  شماره 

صفحات  -

تاریخ انتشار 2015