"Choreoathetosis"

Unilateral akathisia and choreoathetosis as an unusual presentation of a frontal lobe dermoid cyst. To consider an unusual presentation of a frontal lobe dermoid cyst. Intracranial masses very rarely present with movement disorders. We describe a highly unusual presentation of an intracranial dermoid with unilateral choreoathetosis, akathisia and facial tics. A 63-year-old man presented

Worsening Choreoathetosis in Huntington’s Disease with Fluoxetine, Lisdexamfetamine, and Melatonin: A Case Report Cognitive, affective, and sleep disturbances can be found in patients with Huntington's disease (HD), and medications used to treat these HD-related sequela can also impact HD-related movement disorders. We present the case of a 52-year-old Caucasian man with previously undiagnosed HD who exhibited significant choreoathetoid movements that improved with discontinuation of fluoxetine and lisdexamfetamine upon hospital admission. Following diagnosis of HD through genetic testing, he was administered 5mg of oral melatonin on two consecutive evenings, which resulted in worsening choreoathetosis. We calculated Naranjo adverse event scores of 5, 5, and 2 for fluoxetine

Choreoathetosis – an unusual adverse effect of dihydroartemisinin-piperaquine: a case report Dihydroartemisinin-piperaquine is a combination of dihydroartemisinin and piperaquine which is highly effective in the treatment of uncomplicated falciparum malaria. Its adverse effects are generally tolerable and temporary. Choreoathetosis, an involuntary movement disorder characterized by continuous . Dihydroartemisinin-piperaquine-induced generalized choreoathetosis was diagnosed. He was sedated with diazepam and dihydroartemisinin-piperaquine was discontinued. The antimalarial drug was substituted with artemether-lumefantrine combination. The clinical progress was good and he was discharged home after 72 hours. No further abnormalities were noted during 7 months of follow-up. Although dihydroartemisinin

Cracking the Crack Dance: A Case Report on Cocaine-induced Choreoathetosis Movement disorders represent one of the less common presentations of cocaine toxicity observed in clinical practice. Given the magnitude of crack cocaine use, it is vital to understand the underlying pathogenesis. We present a case of a patient who clinically exhibited cocaine-induced choreoathetosis. The diagnosis

Choreoathetosis Is a Possible Adverse Event of a Commonly Used Antibiotic Choreoathetosis (CAS) is attributed to a few neuropsychiatric drugs; however, it is scarcely reported with commonly used antibiotics. To present a case of ceftriaxone (CTX)-induced CAS and to perform a literature review. A medical teaching hospital. An 83-year-old female with end stage renal disease was prescribed CTX 2 g

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases , and choreoathetosis persisted with exacerbation under febrile conditions, but no cerebellar ataxia had ever evolved in 6 years. Whole-exome sequencing (WES) was performed to determine his genetic background, and mutations were validated by the Sanger method. Crude protein extracts were prepared from the cultured cells, and expression of the wild-type or mutant ATP1A3 proteins were analyzed by Western blotting. WES

Paraneoplastic Choreoathetosis in a Patient with Small Cell Lung Carcinoma and Anti-CRMP5/CV2: A Case Report The occurrence of more or less monosymptomatic paraneoplastic choreoathetosis associated with anti-CRMP5/CV2 antibodies is rare. Typically, such autoantibodies are associated with a more classical syndrome - paraneoplastic encephalomyelitis. Frequently, small cell lung carcinoma (SCLC also unremarkable. However, 6 months after the onset, a repeated PET scan and subsequent bronchoscopic biopsy revealed SCLC. In spite of chemotherapy, the SCLC progressed, and the patient died 14 months after the onset of the symptoms. We report paraneoplastic choreoathetosis associated with anti-CRMP5/CV2 antibodies. Such published case histories are rare. Although expected, we did not find any

Clinical patterns of dystonia and choreoathetosis in participants with dyskinetic cerebral palsy. The aim of the study was to map clinical patterns of dystonia and choreoathetosis and to assess the relation between functional classifications and basal ganglia and thalamus lesions in participants with dyskinetic cerebral palsy (CP). In this cross-sectional study, 55 participants with dyskinetic CP (mean age 14y 6mo, SD 4y 1mo; range 6-22y) were assessed with the Dyskinesia Impairment Scale and classified with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). Dystonia and choreoathetosis are simultaneously present. Median levels of dystonia (70.2%) were significantly higher than

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we

, PAA, UOA, TPH, urine MPS, VLCFA†Altered level of consciousness, especially if episodic; stroke- like episodesUCD, MSUD, HCYS, organic acidurias, mitochondrial disordersAmmonia, blood gas, glucose, lactate, electrolytes, anion gap, PAA, TPH, ACP, UOAMovement disorder (ataxia, dystonia, choreoathetosis, myoclonus, tremor)Organic acidurias, HCYS, creatine disorders, LSD, Wilson diseaseBlood gas

syndrome; X-linked [1, 14]Niemann-Pick type C [46]Cereoid lipofuscinosis [72]Lipidoses, aminoacidosis and carbohydrate metabolism disorders [69, 96]Phenylketonuria [44]Paroxysmal kinesiogenic dyskinesia (PKD; paroxysmal kinesiogenic choreoathetosis; dystonia 10 [14, 50], weekly parenteral doses of vitamins and minerals might be helpful [10])Paroxysmal non-kinesiogenic dyskinesia (PNKD); dystonia type 8 [14, 50]Paroxysmal choreoathetosis with infantile febrile convulsions; ICCA [14]Tuberous brain sclerosis [116]FUS-related ALS [34]Mutations in iron-responsive element-binding protein 2; IREB2 [20]18p deletions syndrome [22]X-linked Dystonia-Parkinsonism; Lubag; Dyt3 [31]FXTAS [56]Dopamine D2 receptor variant (also dystonia [107])GLRB mutations (GlyR β-subunit; with hyperekplexia [29])CAMK4 variant

analysis (WGCNA) was performed to gain insights into the function of FRMD5 in the brain. Trio-based whole-exome sequencing was performed in both patients, and CoExp web tool was used to conduct WGCNA. Both patients presented with developmental delay, childhood-onset ataxia, nystagmus, and seizures. Previously unreported findings were diffuse choreoathetosis and dystonia of the hands (patient 1) and areas

(swallowing/dysphagia). Phenomenology includes dystonia, choreoathetosis, combined movement disorders, weakness, and hemiplegic attacks. SAME can develop in diverse diseases and can be preceded by triggers or catabolic states. Recent descriptions of SAME in complex neurodevelopmental and epileptic encephalopathies have broadened appreciation of this presentation beyond inborn errors of metabolism. A high

A novel missense variant at the NKX2-1 homeodomain prevents the transcriptional rescue by TAZ. Brain-Lung-Thyroid syndrome (BLTS) is caused by haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems and hypothyroidism. Genes interacting with NKX2-1 mutants influence its phenotypic variability. We report a novel missense variant and the modifier function of TAZ/WWTR1 in BLTS

. As such, the diagnostic workup, although often focused on HD, must nonetheless consider these other potential etiologies. HD is a hereditary, autosomal dominant fatal neurodegenerative disorder with complete penetrance characterized by progressive behavioral symptoms, choreoathetosis and/or rigidity, and cognitive dysfunction. The genetic basis of the disease is an abnormally increased number of CAG repeats

common motor disorders were spasticity and dystonia (50%), spasticity only (36%), and dystonia only (6%), but 18 different combinations were identified, including choreoathetosis, ataxia, and generalized hypotonia with increased reflexes. Children with spasticity only had less severe functional deficits (p < 0.001) and lower rates of associated intellectual disability (p < 0.01) and epilepsy (p < 0.001

were symptom onset within the first months of life, with central hypotonia or seizures. Within the first year of life, nearly all patients developed a movement disorder comprising dystonia (84%) and choreoathetosis (52%). Twelve (48%) patients suffered life-threatening hyperkinetic crises. Fifteen (60%) patients had epilepsy with poor treatment response. Two patients showed an atypical phenotype

, refers to a subset of patients in whom dystonia and choreoathetosis are the predominant motor manifestations. Most children with CP have abnormal brain MRI studies indicative of cortical and deep gray matter damage consistent with hypoxic ischemic encephalopathy, which may preclude or suggest decreased efficacy of standard deep brain stimulation (DBS) targets. The cerebellum has been posited