They consist, on each side, of the caudate nucleus, the putamen and the globus pallidus. Biotinresponsive basal ganglia diseaselinked mutations. Nothing is known about the impact of these mutations. T422a being the most common and is the founder mutation in saudi arabia, since almost all biotinthiamineresponsive basal ganglia disease cases with saudi origins has this mutation. Biotinthiamineresponsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. Enable javascript to view the expandcollapse boxes. Biotin responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. Biotin responsive basal ganglia disease should be renamed biotin thiamine responsive basal ganglia disease. Basal ganglia disease, biotinresponsive how is basal. Biotin thiamine responsive basal ganglia disease btbgd is a highly variable neurological condition with a wide clinical spectrum. Apr 26, 2016 genetic testing confirmed biotin responsive basal ganglia disease, which is secondary to mutations in the slc19a3 thiamine transporter gene, usually in middle eastern and indian patients.
The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin. Intriguingly, these patients manifest biotinresponsive basal ganglia disease bbgd, a recessive disorder characterized by a brainspecific pathology of childhood onset subacute encephalopathy progressing through severe cogwheel rigidity, dystonia, and quadriparasis to eventual lethality. Biotinthiamineresponsive basal ganglia disease btbgd is a rare treatable autosomal recessive neurometabolic disorder characterized by. It is specifically inhibited by chloroquine clinical significance. Biotinthiamineresponsive basal ganglia disease is a rare condition. We first investigated all patients attending our division of pediatric neurology with a genetically proven diagnosis of bbgd between 2009 and 2011.
Sir, biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness. Pdf biotinthiamineresponsive basal ganglia disease btbgd is. Depression in adult patients with biotin responsive basal. Biotin responsive basal ganglia disease is a treatable underdiagnosed disease. Research open access biotinresponsive basal ganglia.
Biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy. The clinical features appear around three to four years of age and include subacute encephalopathy confusion, drowsiness, and altered level of consciousness, ataxia. Bbgd typically causes subacute episodes with encephalopathy and subsequent neurological deterioration. Biotin thiamine responsive basal ganglia disease btbgd is a rare treatable autosomal recessive metabolic disorder caused by mutations in slc19a3 gene.
Research open access biotinresponsive basal ganglia disease. Two indian siblings born to a consanguineous marriage presented with regression of milestones, epilepsy and dystonia. In 1 family with firstcousin parents, 2 sisters were affected and 4 of their sibs, 2 boys and 2 girls, had died of a similar disease without diagnosis. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days. Test biotinthiamineresponsive basal ganglia disease via. Basal ganglia disease an overview sciencedirect topics. Biotin responsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Jan 15, 2016 biotin thiamine responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. Biotinthiamineresponsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional.
Mutations in this gene cause biotinresponsive basal ganglia disease bbgd. Two indian siblings born to a consanguineous marriage presented with regression of. Biotinresponsive basal ganglia disease should be renamed biotin. We describe in detail the clinical and neuroradiological features of these 10 cases and compare them with those of other basal ganglia diseases of childhood. There are multiple mutations responsible for this disease, with homozygous missense mutation in exon 5 of the slc19a3 gene c. Standard protocol approvals, registrations, and patient consents were obtained. Biotin responsive basal ganglia disease bbgd, also known as thiamine metabolism dysfunction syndrome2 thmd2 mim. Alfadhel m, almuntashri m, jadah rh, bashiri fa, al rifai mt, al shalaan h, al balwi m, al rumayan a, eyaid w, altwaijri w. Btbgd represents a clinical spectrum of disorders resulting from loss of the neuronal thiamine transporter hthtr2. Biotinresponsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. Brain 1998, 121, 12671279 biotinresponsive basal ganglia. Oct 29, 20 biotin responsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Brain 1998, 121, 12671279 biotinresponsive basal ganglia disease.
Biotinthiamineresponsive basal ganglia disease btrbgd is a neurometabolic autosomal recessive ar disorder characterized by subacute encephalopathy. However, there is no report in the literature on the long term outcome of these. Analytical sensitivity should be high because the great majority of pathogenic variants thus far reported are detectable by sequencing genomic dna. Basal ganglia diseases definition of basal ganglia. Thiamine phosphokinase deficiency and mutation in tpk1. When checking for a misdiagnosis of basal ganglia disease, biotinresponsive or confirming a diagnosis of basal ganglia disease, biotinresponsive, it is useful to consider what other medical conditions might be possible misdiagnoses or other alternative conditions relevant to diagnosis. Dystonia and cogwheel rigidity are nearly always present.
The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated. Biotinresponsive basal ganglia disease definition of. Basal ganglia diseases definition of basal ganglia diseases. Biotinthiamineresponsive basal ganglia disease genetics home. Biotinresponsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute. Neuroimaging features before and after treatment biotinresponsive basal ganglia disease. Zuheir alkawi4 and omar dabbagh4 departments of 1paediatrics, 2biological and medical correspondence to. Biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. Biotinresponsive basal ganglia disease is an autosomal recessive disorder with childhood onset that presents with subacute episodes of encephalopathy often triggered by febrile illness and characterized by confusion, dysarthria, and dysphagia that progresses to. Biotinthiamine responsive basal ganglia disease btrbgd is a neurometabolic autosomal recessive ar disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. A case report of biotinthiamineresponsive basal ganglia. Biotin thiamine responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. Biotinresponsive basal ganglia disease should be renamed biotin thiamineresponsive basal ganglia disease. The primary features include recurrent episodes of encephalopathy manifesting as confusion, seizures, ataxia, and dystonia.
Biotin responsive basal ganglia disease is an autosomal recessive disorder with childhood onset that presents with subacute episodes of encephalopathy often triggered by febrile illness and characterized by confusion, dysarthria, and dysphagia that progresses to severe cogwheel rigidity, dystonia, quadriparesis and, if left untreated, to. All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. It usually presents with encephalopathy and dystonia. Biotinresponsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in. Biotinresponsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in 1998. Biotinresponsive basal ganglia disease new york clients tests displaying the status new york approved. Early diagnosis and treatment of this disorder results in good clinical recovery in childhood. Biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy. Biotinresponsive basal ganglia disease in ethnic europeans. Jun 06, 20 biotin responsive basal ganglia disease bbgd, also known as thiamine metabolism dysfunction syndrome2 thmd2 mim. The disease was first described in 1998 and later genetically characterized in 2005 ozand et al. Treatment of biotin responsive basal ganglia disease. Pdf background biotinresponsive basal ganglia disease bbgd is an autosomal. Genetic testing confirmed biotinresponsive basal ganglia disease, which is secondary to mutations in the slc19a3 thiamine transporter gene, usually in middle eastern and indian patients.
Among 82 patients, only one was diagnosed with biotin responsive basal ganglia disease ctga database editors note. The disease is completely reversible if treated early with biotin and thiamine, and can be fatal if left untreated we herein present our experience with in. Treatment of biotinresponsive basal ganglia disease. The disorder presents with varied neurological manifestations, early identification and treatment of which prevents the associated mortality and morbidity. Biotinthiamineresponsive basal ganglia disease btbgd is a neurological disorder characterized by encephalopathy and neurological decline. Baumgartner, in handbook of clinical neurology, 20. Omim 607483 is a rare autosomal recessive disorder, which is caused by mutations in the slc19a3 gene, encoding a thiamine transporter hthtr2. A case report of biotinthiamineresponsive basal ganglia di. The invitae biotinthiamineresponsive basal ganglia disease btbgd test analyzes the slc19a3 gene. Btbgd is characterized by recurrent encephalopathy including seizures, ataxia, and dystonia, an abnormal mri with hyperintensities in the caudate andor putamen, and normal biochemical lab tests. Biotinresponsive basal ganglia disease should be renamed biotinthiamineresponsive basal ganglia disease. To investigate the clinical, genetic, and neuroradiologic data of biotin responsive basal ganglia disease bbgd and clarify the disease spectrum. Biotinresponsive basal ganglia disease revisited neurology.
It is characterized by sub acute encephalopathy with confusion, seizure, dysarthria and dystonia following a history of febrile illness. As its name suggests, the condition may improve if. Misdiagnosis of basal ganglia disease, biotinresponsive. Nov 21, 20 biotin thiamine responsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. Biotin thiamin responsive basal ganglia disease in siblings. It is a neurometabolic syndrome which was first described on 1988. Disease onset can occur anytime between infancy and adulthood, with the preponderance of cases showing. It should be suspected in pediatric patients with unexplained encephalopathy whose brain mr imaging shows bilateral and symmetric lesions in the caudate heads and putamen, with or without involvement of mesencephalon, thalami, and corticalsubcortical. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive disorder, which is caused by mutations in the slc19a3 gene. Psychological assessment of patients with biotinthiamine. Biotin or thiamine responsive basal ganglia disease omim607483 is caused by mutations in slc19a3. Abstract we describe a novel, biotinresponsive basal ganglia disease in 10 patients. Test biotinthiamineresponsive basal ganglia disease. We report a case of biotinresponsive basal ganglia disease with similarities and differences compared to the previously reported cases by ozand et al.
Biotinthiamineresponsive basal ganglia disease btbgd is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, andor dysphagia which if left untreated can eventually lead to coma and even death. Biotin responsive basal ganglia disease bbgd, is a potentially treatable inherited metabolic disorder which clinically presents as subacute encephalopathy in children. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. Biotin thiamine responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. Thtr2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Research indicates that increased output of the basal ganglia inhibits thalamocortical projection neurons.
Biotin responsive basal ganglia disease bbgd was first described by ozand et al in 10 patients of arab ancestry in 1998. In one family with firstcousin parents, two sisters were affected and four of their sibs, two boys and two girls, had died of a similar. Genedx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Neuroimaging features before and after treatment 20141001 00. Biotinthiamineresponsive basal ganglia disease btbgd may present in childhood, early infancy, or adulthood. Invitae biotinthiamineresponsive basal ganglia disease. Gascon,5 mohammed al essa,1 surendra joshi,1 emtethal al jishi,1 seima bakheet,3 jehad al watban,3 m. We describe a novel, biotinresponsive basal ganglia disease in 10 patients. Biotinthiamineresponsive basal ganglia disease genetics. Biotinthiamineresponsive basal ganglia disease genetic.
Uses, side effects, interactions, dosage, and warning. Biotin responsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. Neuroimaging features before and after treatment article pdf available october 2018 with 65 reads how we measure reads. Biotinresponsive basal ganglia disease in ethnic europeans with. Objectiveto report the first 2 european cases of biotinresponsive basal ganglia disease and novel slc19a3 mutations. Omim 607483 was first described in 1998 in 10 patients, 8 of whom were of saudi arabian, 1 of whom was of syrian, and 1 of whom was of yemenite ethnic origin. Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. If left untreated with biotin, the disease can progress to severe quadriparesis and even death.
Symptoms of basal ganglia disease, biotinresponsive. Pdf biotinresponsive basal ganglia disease should be renamed. To investigate the clinical, genetic, and neuroradiologic data of biotinresponsive basal ganglia disease bbgd and clarify the disease spectrum. Biotin responsive basal ganglia disease, also called thiamin metabolism dysfunction syndrome2, is caused by mutations in the gene coding for thiamin transporter2 thtr2. Az biotinresponsive basal ganglia disease biotinresponsive basal ganglia disease. We describe a novel, biotin responsive basal ganglia disease in 10 patients. Biotin or thiamineresponsive basal ganglia disease omim607483 is caused by mutations in slc19a3. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia. Biotin thiamineresponsive basal ganglia disease btrbgd is a neurometabolic autosomal recessive ar disorder characterized by subacute encephalopathy with confusion, convulsions, dysarthria, and dystonia. The parents in all cases were consanguineous, being first cousins in seven of the 10. Biotin thiamine responsive basal ganglia diseasea potentially.
Biotin thiamine responsive basal ganglia disease is a devastating autosomal recessive inherited neurological disorder. The parents in all cases were consanguineous, being first cousins in 7 of the 10. Biotin thiamineresponsive basal ganglia disease btrbgd omim. Biotinresponsive basal ganglia disease bbgd is an autosomal recessive neurometabolic disorder. T422a being the most common and is the founder mutation in saudi arabia, since almost all biotin thiamine responsive basal ganglia disease cases with saudi origins has this mutation. This signs and symptoms information for basal ganglia disease, biotinresponsive has been gathered from various sources, may not be fully accurate, and may not be the full list of basal ganglia disease, biotinresponsive signs or basal ganglia disease, biotinresponsive symptoms. Biotinresponsive basal ganglia disease should be renamed. Biotinresponsive basal ganglia disease bbgd, also known as thiamine metabolism dysfunction syndrome2 thmd2 mim.
We analyzed the data for demographic and clinical features, genetic and neuroradiologic findings, and treatment efficacy. Biotinresponsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. Biotinthiaminresponsive basal ganglia disease btbgd is a genetic disorder that affects the nervous system, including a group of structures in the brain termed the basal ganglia that help control movement. Biotin linus pauling institute oregon state university. Biotin thiamine responsive basal ganglia disease is a rare disorder, and clinical sensitivity cannot yet be estimated. These symptoms disappear within a few days if biotin 5. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. Biotin thiamine responsive basal ganglia disease btrbgd is a rare genetic disorderwhich may be misdiagnosed due to lack of awareness regarding its existence.
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