No abstract available.
Head* ; Humans ; Parkinsonian Disorders*

No abstract available.
Dystonia* ; Essential Tremor* ; Tremor*

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.
Alopecia ; Brain ; Consanguinity ; Diabetes Mellitus ; Diagnosis ; Dystonia ; Humans ; Hypogonadism ; Intellectual Disability ; Iron ; Movement Disorders ; Neurodegenerative Diseases ; Phenotype ; Siblings

OBJECTIVE: Rapid eye movement sleep behavior disorder (RBD) is associated with α-synucleinopathies, such as Parkinson's disease (PD). We aimed to assess the differences in the clinical characteristics of PD with and without RBD. METHODS: Forty-two patients previously diagnosed with PD were evaluated for clinical history, motor and cognitive functioning using the Unified Parkinson's Disease Rating Scale (UPDRS) and Mini-Mental State Examination (MMSE), autonomic symptoms, sleep characteristics using the Pittsburg Sleep Quality Index (PSQI), and the presence of RBD using the Korean version of the RBD screening questionnaire (RBDSQ). The prevalence of RBD and the patients' demographic features were evaluated. The patients were classified into two groups, PD with RBD and PD without RBD, based on the RBDSQ scores. The motor and cognitive functions, as well as other clinical features of the two groups were compared. RESULTS: A total of 42 PD patients were enrolled. Eighteen patients were classified as PD with RBD. Compared to PD without RBD, PD with RBD showed higher scores of rigidity in the UPDRS subscale. Regarding sleep problems, PD with RBD revealed higher sleep disturbance, lower sleep efficiency, and lower overall sleep quality in the PSQI. There was no difference in cognitive dysfunction between the two groups according to the Korean version of the MMSE. CONCLUSIONS: PD with RBD was associated with poorer sleep and motor symptoms. Therefore, RBD symptoms in PD are possibly poor prognostic markers.
Cognition ; Humans ; Mass Screening ; Parkinson Disease ; Prevalence ; REM Sleep Behavior Disorder* ; Sleep, REM*

OBJECTIVE: The aim of this subgroup analysis was to identify the risk factors associated with the development of various movement disorder phenotypes. METHODS: Eighty-three non-Wilsonian cirrhotic patients with abnormal movements were allocated into the following groups: intention tremor, bradykinesia, Parkinsonism, and abnormal ocular movements. These movement types were considered the primary outcomes as there was a sufficient sample size. Researchers took into consideration the gender, etiologies of cirrhosis, cirrhosis-related complications, hepatic encephalopathy, medical illness, and some neurological deficits as potential factors associated with these movement disorders. RESULTS: The male gender (p = 0.002) and alcoholic cirrhosis (p = 0.005) were significant factors for the prevalence of intention tremors. In bradykinesia, hepatic encephalopathy was highly statistically significant (p < 0.001), and females more commonly developed bradykinesia (p = 0.04). The Parkinsonism features in this study were confounded by hyperlipidemia (p = 0.04) and motor or sensory deficits (p = 0.02). Jerky pursuits and a horizontal nystagmus were detected. Jerky pursuits were significantly related to hepatic encephalopathy (p = 0.003) and bradykinesia, but there were no factors associated with the prevalence of nystagmus other than an intention tremor. CONCLUSIONS: The association of alcoholic cirrhosis with the development of intention tremor indicates that the persistent cerebellar malfunction in cirrhotic patients is due to alcohol toxicity. The slowness of finger tapping and jerky pursuit eye movements are significantly associated with hepatic encephalopathy. Thus, further studies are needed to evaluate the diagnostic value of these two signs for an early detection of mild hepatic encephalopathy.
Dyskinesias ; Eye Movements ; Female ; Fibrosis ; Fingers ; Hepatic Encephalopathy ; Humans ; Hyperlipidemias ; Hypokinesia ; Liver Cirrhosis, Alcoholic ; Male ; Movement Disorders* ; Nystagmus, Pathologic ; Parkinsonian Disorders ; Phenotype* ; Prevalence ; Risk Factors* ; Sample Size ; Tremor

OBJECTIVE: The purpose of the present study was to investigate cardiovascular autonomic dysfunction in patients with Parkinson's disease (PD) with mild to severe stages of motor symptoms and to compare cardiovascular autonomic dysfunction between drug-naïve and dopaminergic drug-treated groups. METHODS: This study included 188 PD patients and 25 age-matched healthy controls who underwent head-up tilt-testing, 24-h ambulatory blood pressure (BP) monitoring and 24-h Holter monitoring. Autonomic function test results were evaluated among groups categorized by motor symptom severities (mild vs. moderate vs. severe) and treatment (drug-naïve or dopaminergic drug treatment). RESULTS: Orthostatic hypotension and supine hypertension were more frequent in patients with PD than in healthy controls. The frequencies of orthostatic hypotension, supine hypertension, nocturnal hypertension and non-dipping were not different among groups. Additionally, no significant differences were detected in supine BP, orthostatic BP change, nighttime BP, nocturnal BP dipping, or heart rate variabilities among groups. CONCLUSIONS: Cardiovascular autonomic dysfunction is not confined to moderate to severe PD patients, and starts early in the course of the disease in a high proportion of PD patients. In addition, dopaminergic drug treatments do not affect cardiovascular autonomic function.
Blood Pressure ; Electrocardiography, Ambulatory ; Heart Rate ; Humans ; Hypertension ; Hypotension, Orthostatic ; Parkinson Disease*

Parkinson's disease (PD) is a neurodegenerative disease with heterogeneous pathological and clinical features. Cognitive dysfunction, a frequent non-motor complication, is a risk factor for poor prognosis and shows inter-individual variation in its progression. Of the clinical studies performed to identify biomarkers of PD progression, the Parkinson's Progression Markers Initiative (PPMI) study is the largest study that enrolled drug-naïve and very early stage PD patients. The baseline characteristics of the PPMI cohort were recently published. The diagnostic utility of cerebrospinal fluid (CSF) biomarkers, including alpha-synuclein (α-syn), total tau, phosphorylated tau at Thr181, and amyloid β1-42, was not satisfactory. However, the baseline data on CSF biomarkers in the PPMI study suggested that the measurement of the CSF biomarkers enables the prediction of future cognitive decline in PD patients, which was consistent with previous studies. To prove the hypothesis that the interaction between Alzheimer's pathology and α-syn pathology is important to the progression of cognitive dysfunction in PD, longitudinal observational studies must be followed. In this review, the neuropathological nature of heterogeneous cognitive decline in PD is briefly discussed, followed by a summarized interpretation of baseline CSF biomarkers derived from the data in the PPMI study. The combination of clinical, biochemical, genetic and imaging biomarkers of PD constitutes a feasible strategy to predict the heterogeneous progression of PD.
alpha-Synuclein* ; Amyloid* ; Biomarkers ; Cerebrospinal Fluid* ; Cognition ; Cohort Studies ; Humans ; Neurodegenerative Diseases ; Parkinson Disease* ; Pathology ; Prognosis ; Risk Factors

Cerebellar circuitry is important to controlling and modifying motor activity. It conducts the coordination and correction of errors in muscle contractions during active movements. Therefore, cerebrovascular lesions of the cerebellum or its pathways can cause diverse movement disorders, such as action tremor, Holmes' tremor, palatal tremor, asterixis, and dystonia. The pathophysiology of abnormal movements after stroke remains poorly understood. However, due to the current advances in functional neuroimaging, it has recently been described as changes in functional brain networks. This review describes the clinical features and pathophysiological mechanisms in different types of movement disorders following cerebrovascular lesions in the cerebellar circuits.
Brain ; Cerebellum ; Cerebrovascular Disorders ; Dyskinesias ; Dystonia ; Functional Neuroimaging ; Motor Activity ; Movement Disorders* ; Muscle Contraction ; Stroke ; Tremor

Movement disorders are primarily associated with the basal ganglia and the thalamus; therefore, movement disorders are more frequently manifest after stroke compared with neurological injuries associated with other structures of the brain. Overall clinical features, such as types of movement disorder, the time of onset and prognosis, are similar with movement disorders after stroke in other structures. Dystonia and chorea are commonly occurring post-stroke movement disorders in basal ganglia circuit, and these disorders rarely present with tremor. Rarer movement disorders, including tic, restless leg syndrome, and blepharospasm, can also develop following a stroke. Although the precise mechanisms underlying the pathogenesis of these conditions have not been fully characterized, disruptions in the crosstalk between the inhibitory and excitatory circuits resulting from vascular insult are proposed to be the underlying cause. The GABA (gamma-aminobutyric acid)ergic and dopaminergic systems play key roles in post-stroke movement disorders. This review summarizes movement disorders induced by basal ganglia and thalamic stroke according to the anatomical regions in which they manifest.
Basal Ganglia* ; Blepharospasm ; Brain ; Cerebrovascular Disorders ; Chorea ; Dystonia ; gamma-Aminobutyric Acid ; Movement Disorders* ; Prognosis ; Restless Legs Syndrome ; Stroke ; Thalamus ; Tics ; Tremor

Post-stroke movement disorders are uncommon, but comprise an important part of secondary movement disorders. These exert variable and heterogeneous clinical courses according to the stroke lesion and its temporal relationships. Moreover, the predominant stroke symptoms hinder a proper diagnosis in clinical practice. This article describes the etiology, treatment options and prognosis of post-stroke movement disorders.
Diagnosis ; Movement Disorders* ; Prognosis* ; Stroke