A 21-year-old male was admitted with severe right arm and hand tremors after a thalamic hemorrhage caused by a traffic accident. He was also suffering from agonizing pain in his right shoulder that manifested after the tremor. Neurologic examination revealed a disabling, severe, and irregular kinetic and postural tremor in the right arm during target-directed movements. There was also an irregular ipsilateral rest tremor and dystonic movements in the distal part of the right arm. The amplitude was moderate at rest and extremely high during kinetic and intentional movements. The patient underwent left globus pallidum internus and ventral intermediate thalamic nucleus deep brain stimulation. The patient improved by more than 80% as rated by the Fahn-Tolosa-Marin Tremor Rating Scale and Visual Analog Scale six months after surgery.
Accidents, Traffic ; Arm ; Deep Brain Stimulation* ; Felodipine ; Globus Pallidus* ; Hand ; Hemorrhage ; Humans ; Male ; Neurologic Examination ; Shoulder Pain* ; Shoulder* ; Tremor* ; Visual Analog Scale ; Young Adult

Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.
Ataxia ; Atrophy ; Cerebellar Ataxia* ; Cerebellar Diseases ; Diagnosis ; Disease Progression ; Humans ; Mesencephalon ; Neuroimaging ; Paralysis* ; Phenotype ; Retrospective Studies ; Supranuclear Palsy, Progressive

OBJECTIVE: To compare the therapeutic and adverse effects of globus pallidus interna (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) for the treatment of advanced Parkinson's disease (PD). METHODS: We retrospectively analyzed the clinical data of patients with PD who underwent GPi (n = 14) or STN (n = 28) DBS surgery between April 2002 and May 2014. The subjects were matched for age at surgery and disease duration. The Unified Parkinson's Disease Rating Scale (UPDRS) scores and levodopa equivalent dose (LED) at baseline and 12 months after surgery were used to assess the therapeutic effects of DBS. Adverse effects were also compared between the two groups. RESULTS: At 12 months, the mean changes in the UPDRS total and part I–IV scores did not differ significantly between the two groups. However, the subscores for gait disturbance/postural instability and dyskinesia were significantly more improved after GPi DBS than those after STN DBS (p = 0.024 and 0.016, respectively). The LED was significantly more reduced in patients after STN DBS than that after GPi DBS (p = 0.004). Serious adverse effects did not differ between the two groups (p = 0.697). CONCLUSION: The patients with PD showed greater improvement in gait disturbance/postural instability and dyskinesia after GPi DBS compared with those after STN DBS, although the patients had a greater reduction in LED after STN DBS. These results may provide useful information for optimal target selection for DBS in PD.
Deep Brain Stimulation* ; Dyskinesias ; Gait ; Globus Pallidus ; Humans ; Levodopa ; Parkinson Disease* ; Retrospective Studies ; Subthalamic Nucleus ; Therapeutic Uses

Parkinson's disease (PD), the second most common neurodegenerative disorder after Alzheimer's disease, is characterized by the loss of nigral dopaminergic neurons. PD leads to a series of clinical symptoms, including motor and non-motor disturbances. α-synuclein, the major component of Lewy bodies, is a hallmark lesion in PD. In this review, we concentrate on presenting the latest research on the structure, distribution, and function of α-synuclein, and its interactions with PD. We also summarize the clinic applications of α-synuclein, which suggest its use as a biomarker, and the latest progress in α-synuclein therapy.
alpha-Synuclein ; Alzheimer Disease ; Dopaminergic Neurons ; Lewy Bodies ; Neurodegenerative Diseases ; Parkinson Disease*

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*