Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

Conclusion: BBGD is an underdiagnosed pan-ethnic treatable condition. Clinicians caring for patients with unexplained encephalopathy and neuroimaging showing vasogenic edema in the bilateral putamen and caudate nuclei, infra- and supratentorial cortex, and brainstem should consider this disorder early in the hospital course because a therapeutic trial with biotin and thiamine can be lifesaving.
Source: Neurology - Category: Neurology Authors: Tags: All Imaging, Metabolic disease (inherited), Dystonia, Basal ganglia ARTICLE Source Type: research

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Alternating hemiplegia of childhood (AHC) is a severe neurological disorder with infantile-onset recurrent episodes of hemiplegia in either side of the body and other paroxysmal events such as seizures, dystonia, tonic episodes, abnormal eye movements or autonomic dysfunction, primarily due to de novo pathogenic mutations in the ATP1A3 gene. The burden of neuro morbidities is significant and includes epilepsy, ADHD, behavioral difficulties, motor, cognitive, adaptive, and learning impairment, ataxia, movement disorders, and migraine.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Mutations in PURA (coding for purine-rich element binding protein A) have recently been shown to cause the neurodevelopmental disorder previously associated with 5q31.3 microdeletion syndrome1,2. To date, children with PURA syndrome have been described with neonatal hypotonia, hypersomnolence, hypothermia, respiratory compromise, and feeding difficulties. All reported patients have moderate-severe neurodevelopmental delays with some later developing epilepsy and nonepileptic hyperkinetic movements (dystonia, dyskinesia, eye movement abnormalities).
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31628766 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
In this report, we present a case of UFS, not due to HFS, highlighting clinical red flags for an alternative diagnosis.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor 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
Abstract Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new mutations and their phenotypes are reported here (p.Asp366His, p.Asp742Tyr, p.Asp743His, p.Leu924Pro, and a VUS, p.Arg463Cys). Mutations associated with mild or severe phenotypes [rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), or early infantile epileptic encephalopathy (EIEE)] were expressed in HEK-293 cells. Paradoxically, the severity of human symptoms did not correlate with whether there was enough resi...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Abstract Deep brain stimulation (DBS) has evolved considerably over the past 4 decades. Although it has primarily been used to treat movement disorders such as Parkinson's disease, essential tremor, and dystonia, recently it has been approved to treat obsessive-compulsive disorder and epilepsy. Novel potential indications in both neurological and psychiatric disorders are undergoing active study. There have been significant advances in DBS technology, including preoperative and intraoperative imaging, surgical approaches and techniques, and device improvements. In addition to providing significant clinical benefit...
Source: Journal of Neurosurgery - Category: Neurosurgery Authors: Tags: J Neurosurg Source Type: research
We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus–dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders. [...] Georg Thieme Verl...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research
CONCLUSIONS: Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met. SCN1A Gain of Function in Early Infantile Encephalopathy Berecki G, Bryson A, Terhag J, et al. Ann ...
Source: Epilepsy Curr - Category: Neurology Authors: Tags: Epilepsy Curr Source Type: research
AbstractGenetic mutations inTBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). ...
Source: Brain - Category: Neurology Source Type: research
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