title: Blepharospasm 40 years later.
abstract: Forty years ago, C.D. Marsden proposed that blepharospasm should be considered a form of adult-onset focal dystonia. In the present paper, we provide a comprehensive overview of the findings regarding blepharospasm reported in the past 40 years. Although prolonged spasms of the orbicularis oculi muscles remain the clinical hallmark of blepharospasm, patients with blepharospasm may be characterized by various types of involuntary activation of periocular muscles. In addition to motor features, blepharospasm patients may also have nonmotor manifestations, including psychiatric, mild cognitive, and sensory disturbances. The various motor and nonmotor symptoms are not present in all patients, suggesting that blepharospasm is phenomenologically a heterogeneous condition. This emphasizes the need for tools for severity assessment that take into account both motor and nonmotor manifestations. The cause of blepharospasm remains elusive, but several lines of evidence indicate that blepharospasm is a multifactorial condition in which one, or several, as yet unknown genes together with epigenetic and environmental factors combine to reach the threshold of the disease. Although blepharospasm was originally believed to be solely a basal ganglia disorder, neurophysiological and neuroimaging evidence point to anatomical and functional involvement of several brain regions. The contribution of multiple areas has led to the hypothesis that blepharospasm should be considered as a network disorder, and this might reflect the varying occurrence of motor and nonmotor manifestations in blepharospasm patients. Despite advances in the aetiology and pathophysiology, treatment remains symptomatic. © 2017 International Parkinson and Movement Disorder Society.
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sensory Organs, "Aldo Moro", University of Bari, Bari, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Defazio
authors.affiliation: Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Mark
authors.initials: M
authors.lastname: Hallett
authors.affiliation: Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, Georgia, USA.
authors.forename: Hyder A
authors.initials: HA
authors.lastname: Jinnah
authors.affiliation: Department of Neurology and Psychiatry, Sapienza, University of Rome, Rome, Italy.|Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Neuromed, Pozzilli, IS, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Conte
authors.affiliation: Department of Neurology and Psychiatry, Sapienza, University of Rome, Rome, Italy.|Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Neuromed, Pozzilli, IS, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Berardelli
mesh_terms: D001764:Blepharospasm / Q000453:epidemiology* / Q000503:physiopathology* / Q000628:therapy; D003072:Cognition Disorders / Q000150:complications; D006801:Humans; D008137:Longitudinal Studies; D001523:Mental Disorders / Q000150:complications; D009069:Movement Disorders / Q000150:complications; D015995:Prevalence; D012893:Sleep Wake Disorders / Q000150:complications
keywords: blepharospasm; clinical features; dystonia; pathophysiology