Clinical Reasoning: A demure teenager and her dystonic foot

A 13-year-old girl presented with a 4-year history of abnormal gait. At age 9, her parents noticed that she would run awkwardly "on the balls of her feet" and subsequently, that the rhythm of her running would break down with sustained exercise. There was no diurnal variation in her symptoms. There was no history of perinatal insults and early development was normal. There was no significant medical or psychiatric comorbidity and her family history was unremarkable. Examination of the patient's gait is demonstrated in video 1 at Neurology.org.
Source: Neurology - Category: Neurology Authors: Tags: Dystonia, Parkinson's disease/Parkinsonism, All Pediatric, All Genetics RESIDENT AND FELLOW SECTION Source Type: research

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AbstractGuanosine triphosphate cyclohydrolase I (GCH1) mutations are associated with increased risk for dopa-responsive dystonia (DRD) and Parkinson ’s disease (PD). Herein, we investigated the frequency ofGCH1 mutations and clinical symptoms in patients with clinically diagnosed PD and DRD. We used the Sanger method to screen entire exons in 268 patients with PD and 26 patients with DRD, with the examinations of brain magnetic resonance imaging scans, striatal dopamine transporter scans, and [123I] metaiodobenzylguanidine (MIBG) myocardiac scintigraphy scans. We identified 15 patients with heterozygousGCH1 mutations...
Source: Journal of Neurology - Category: Neurology Source Type: research
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Roberta Ferrucci, Alberto Priori The cerebellum plays a fundamental role in movement execution and motor control in humans. Because of multiple cerebellar connections and a broad variety of motor and nonmotor functions, the field of cerebellar stimulation with noninvasive techniques has gained success among researchers in the last few years. These techniques allow investigation of the neural network noninvasively, collecting more information on cerebellar physiology and pathophysiology. Several studies have highlighted the therapeutic pote...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
Parkinson disease is a common neurodegenerative disease that typically starts around the age of 60  years; however, juvenile-onset disease can occur rarely. Although Parkinson disease is typically sporadic; in rare occasions, it can be caused by a single gene defect that is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Herein, we describe a 10-year-old child who h ad juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
Deep brain stimulation (DBS) has been recognized as an efficacious treatment option for advanced stages of idiopathic Parkinson's disease (PD), essential tremor (ET), and dystonia [1 –3].
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
by Eli J. M üller, Peter A. Robinson Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is modeled to explore the mechanisms of this effective, but poorly understood, treatment for motor symptoms of drug-refractory Parkinson’s disease and dystonia. First, a neural field model of the corticothalamic-basal ganglia (CTBG) s ystem is developed that reproduces key clinical features of Parkinson’s disease, including its characteristic 4–8 Hz and 13–30 Hz electrophysiological signatures. Deep brain stimulation of the STN is then modeled and shown to suppress the pathological 13–30 Hz...
Source: PLoS Computational Biology - Category: Biology Authors: Source Type: research
Deep brain stimulation devices, used to treat neurological movement disorders like Parkinson’s disease, are vulnerable to strong electromagnetic fields that are created by other electrical devices. But when a 66-year-old Slovenian woman’s DBS implant stopped working, it wasn’t due to interference from a device – the malfunction was caused by lightning. In a case report published this week in the Journal of Neurosurgery, doctors described a unique case they encountered with a patient using a rechargeable DBS system to treat her neck dystonia. When her apartment was struck by lightning, the patie...
Source: Mass Device - Category: Medical Devices Authors: Tags: Neurological Source Type: news
This study aimed to evaluate DNAJC12 coding mutations in sporadic Chinese Han patients with Parkinson's disease (PD) and test whether an age-of-onset effect exists. Seven hundred two Chinese Han sporadic PD patients, including 181 early-onset PD and 521 late-onset PD, and 728 healthy controls were recruited. No documented disease-causing mutation of DNAJC12 was identified, but we found 7 single-nucleotide polymorphisms.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Tags: Genetic reports abstract Source Type: research
This study aimed to evaluate DNAJC12 coding mutations in sporadic Chinese Han patients with Parkinson ’s disease (PD) and test whether an age-of-onset effect exists. 702 Chinese Han sporadic PD patients, including181 Early-onset Parkinson’s disease (EOPD) and 521 Late-onset Parkinson’s disease (LOPD), and 728 healthy controls were recruited.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Tags: Negative results Source Type: research
This study aimed to evaluate DNAJC12 coding mutations in sporadic Chinese Han patients with Parkinson's disease (PD) and test whether an age-of-onset effect exists. Seven hundred two Chinese Han sporadic PD patients, including 181 early-onset PD and 521 late-onset PD, and 728 healthy controls were recruited. No documented disease-causing mutation of DNAJC12 was identified, but we found 7 single-nucleotide polymorphisms. Allele frequencies did not differ between all the PD patients and controls or between any 2 subgroups for all these single-nucleotide polymorphisms. Our study suggests that DNAJC12 mutation is not a risk fa...
Source: Neurobiology of Aging - Category: Geriatrics Authors: Tags: Neurobiol Aging Source Type: research
sar D Abstract Deep brain stimulation (DBS) is an established treatment option for advanced stages of Parkinson's disease and other movement disorders. It is known that DBS is susceptible to strong electromagnetic fields (EMFs) that can be generated by various electrical devices at work, home, and in medical environments. EMFs can interfere with the proper functioning of implantable pulse generators (IPGs). Very strong EMFs can generate induction currents in implanted electrodes and even damage the brain. Manufacturers of DBS devices have issued a list of warnings on how to avoid this danger. Strong EMFs can resul...
Source: Journal of Neurosurgery - Category: Neurosurgery Authors: Tags: J Neurosurg Source Type: research
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