Brain sagging syndrome presenting with chorea.
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ABSTRACT:
SUBMITTER: Mulroy E
PROVIDER: S-EPMC5874458 | biostudies-literature |
REPOSITORIES: biostudies-literature
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| S-EPMC7197300 | biostudies-literature
Project description: Not available
| S-EPMC7525192 | biostudies-literature
Project description:BackgroundSince its localization to the NKX2-1 gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea.MethodsThe phenomenology of movement disorders and other symptomatology associated with mutations in NKX2-1 were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.ResultsWe studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in NKX2-1. All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n?=?4), cognitive deficits (n?=?3), hypothyroidism (n?=?4), joint laxity (n?=?2), myoclonus (n?=?1), hypotonia (n?=?3), and seizures (n?=?1). Chorea often proved refractory to medical therapies.ConclusionsThe phenotype associated with pathogenic variants in NKX2-1 frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as NKX2-1-related disorder.
| S-EPMC6335533 | biostudies-literature
Project description: Not available
| S-EPMC8680906 | biostudies-literature
Project description:Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission. We report a consanguineous Turkish family with a different and informative clinical and diagnostic course. Three siblings developed seizures and the index patient had been diagnosed with bilateral temporal lobe epilepsy. A key finding, however, was the basal ganglia involvement in neuroimaging although no movement disorder was present. [18F]FDG-PET showed a prominent decline in striatal glucose metabolism at 31 years of age and [123I]FP-CIT-SPECT revealed a moderate loss of striatal dopamine transporter availability. The family was referred for genetic testing and exome sequencing detected a homozygous novel truncating mutation c.4326 T>A (p.Tyr1442*) in VPS13A in all affected siblings. With this case, we present autosomal recessive epilepsy as the predominant phenotype of ChAc with a new homozygous VPS13A mutation and provide pathological structural and molecular neuroimaging findings.
| S-EPMC6334619 | biostudies-literature
Project description:BACKGROUND:The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. METHODS:We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing. RESULTS:We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity. This mutation is predicted to impair protein function. DISCUSSION:Although discovered more than two decades ago, to date, only five patients with this rare form of GM2 gangliosidosis have been reported. The phenotype of previously described GM2A patients has been typified by onset in infancy, profound hypotonia and impaired volitional movement, intractable seizures, hyperacusis, and a macular cherry red spot. Our findings expand the phenotypic spectrum of GM2A mutation-positive gangliosidosis to include generalized chorea without macular findings or hyperacusis and highlight how mutations in neurodegenerative disease genes may present in unexpected ways.
| S-EPMC4502426 | biostudies-literature
Project description:Background: Post-pump chorea and progressive-supranuclear palsy (PSP)-like syndrome after aortic surgery are 2 distinct movement disorders following major cardiac surgeries.Cases: We herein report 3 patients with movement disorders that developed after major cardiac surgeries. Two patients developed post-pump chorea after pulmonary endarterectomy, and 1 further case developed PSP-like syndrome after aortic replacement surgery. The 2 conditions share several common aspects. Both are preceded by surgeries that undergo cardiopulmonary bypass and deep hypothermia circulatory arrest procedures. Most cases present with biphasic course. However, post-pump chorea occurs in all age populations after any surgeries that undergo deep hypothermia circulatory arrest, whereas PSP-like syndrome is reported exclusively in the adult population after aortic surgery.Conclusions: Post-pump chorea and PSP-like syndrome are neurologic complications of major cardiac surgeries that should not be underrecognized. Further reports to establish their common pathogenic mechanism should be encouraged.
| S-EPMC6962669 | biostudies-literature
Project description:The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole-genome and long-read sequencing in order to track a new pathogenic variant including noncoding repeat expansion.
| S-EPMC7495783 | biostudies-literature
Project description:Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease due to mutation of the VPS13A gene encoding the protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include chorea and dystonia with involuntary lip, cheek, and tongue biting. Some patients also have seizures. Treatment for ChAc is symptomatic. A small number of ChAc patients have been treated with bilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi), and we now present an additional case. Patient chart, functional measures, and laboratory findings were reviewed from the time of ChAc diagnosis until 6 months after DBS surgery. Here, we present a case of ChAc in a 31-year-old male positive for VPS13A gene mutations who presented with chorea, tongue biting, dysarthria, weight loss, and mild cognitive dysfunction. DBS using monopolar stimulation with placement slightly lateral to the GPi was associated with significant improvement in chorea and dysarthria. This case adds to the current state of knowledge regarding the efficacy and safety of bilateral GPi-DBS for symptomatic control of drug-resistant hyperkinetic movements seen in ChAc. Controlled trials are needed to better assess the impact and ideal target of DBS in ChAc.
| S-EPMC6738267 | biostudies-literature
Project description:BACKGROUND:Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14. CASE PRESENTATION:A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members. CONCLUSIONS:This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T?>?G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
| S-EPMC4736661 | biostudies-literature