The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics

The aim of this review is to provide a practical review of pediatric dystonia from a clinician ′s perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Tags: Invited review Source Type: research

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Conclusions: Our investigation suggests that patients with CD show reduced GFC in brain regions of the M1-SMA motor network and provides further insights into the pathophysiology of CD. GFC values in the right precentral gyrus and right SMA may be used as potential biomarkers to recognize the patients from the controls.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
AbstractPelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI). We identified a 12-year-old Caucasian/Hispanic male with the classical clinical characteristics of PMLD with lack of myelination of the subcortical white matter, a...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractSCA48 is a novel spinocerebellar ataxia (SCA) originally and recently characterized by prominent cerebellar cognitive-affective syndrome (CCAS) and late-onset ataxia caused by mutations on theSTUB1 gene. Here, we report the first SCA48 case from Turkey with novel clinical features and diffusion tensor imaging (DTI) findings, used for the first time to evaluate a SCA48 patient. A 65-year-old female patient with slowly progressive cerebellar ataxia, cognitive impairment, behavioral changes, and a vertical family history was evaluated. Following the exclusion of repeat expansion ataxias, whole exome sequencing (WES) w...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
Conclusions Autophagy-related X-linked BPAN disease might still be underdiagnosed in female cases of infantile spasms.Skewed X-inactivation will have mainly influenced the uncommon, very early childhood neurodegenerative symptomatology in the present BPAN case. Oral levodopa substitution led to improvement in sleep disorder, hypersalivation, and swallowing.Reduced white matter and hypointense signals in SN and GP on susceptibility sequences in magnetic resonance imaging are characteristic radiological findings of advanced disease in NBIA. No BPAN-typical halo sign in T1-weighted scan at midbrain level was seen at the ...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Original Article Source Type: research
Conclusions: Our study describes the clinical phenomenology of patients with PTMDs and its radiological correlation. Tremor (alone or in combination with dystonia) was the most common MD observed and diffuse white matter lesions without affection of the basal ganglia was the most common site of lesion.
Source: Neurology India - Category: Neurology Authors: Source Type: research
Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research
AbstractThe cerebellum has recently been highlighted as a key neural substrate responsible for dystonia. A 57-year-old female presented with isolated focal leg dystonia that developed 8  years after acute cerebellar infarction. Brain magnetic resonance imaging showed an old cerebellar infarct in the right anterior cerebellum. Low-frequency cerebellar repetitive transcranial magnetic stimulation on the right cerebellum partially improved dystonia in this patient. This case provides valuable evidence on cerebellar mechanisms related to the development of dystonia in a topographically specific manner. Cerebellar brain st...
Source: The Cerebellum - Category: Neurology Source Type: research
Abstract The cerebellum has recently been highlighted as a key neural substrate responsible for dystonia. A 57-year-old female presented with isolated focal leg dystonia that developed 8 years after acute cerebellar infarction. Brain magnetic resonance imaging showed an old cerebellar infarct in the right anterior cerebellum. Low-frequency cerebellar repetitive transcranial magnetic stimulation on the right cerebellum partially improved dystonia in this patient. This case provides valuable evidence on cerebellar mechanisms related to the development of dystonia in a topographically specific manner. Cerebellar...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
Conclusion: Local abnormalities and interhemispheric interaction deficits in the sensorimotor network (SMA, postcentral gyrus, and PCu), default mode network (MPFC and PCu), and basal ganglia may be the key characteristics in the pathogenesis mechanism of CD. PMID: 31178903 [PubMed - in process]
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
We report a 48-years-old male, who developed numerous motor/vocal tics two months after sustaining non-commotional craniofacial trauma in a car accident. Both his father and brother had died earlier in car crashes. He presented with blepharospasm-like forced lid closure, forceful lip pursing, noisy suction movements, and deep moaning sounds, occurring in variable combinations, without warning symptoms or internal “urge”. Tics showed low distractibility and increased with attention. Standard magnetic resonance imaging, electroencephalography, and evoked potentials were unremarkable. Neuropsychology diagnosed mod...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
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