ataxia/obesity

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Progressive dementia associated with ataxia or obesity in patients with Tropheryma whipplei encephalitis.

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Identifikohuni Regjistrohu

BACKGROUND Tropheryma whipplei, the agent of Whipple's disease, causes localised infections in the absence of histological digestive involvement. Our objective is to describe T. whipplei encephalitis. METHODS We first diagnosed a patient presenting dementia and obesity whose brain biopsy and

Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity.

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Identifikohuni Regjistrohu

BACKGROUND Expansion of a CAG repeat in the coding region of exon 1 in the ATXN2 gene located in human chromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2). In contrast to other polyglutamine (polyQ) disorders, the SCA2 repeat is not highly polymorphic in

Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome?

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Identifikohuni Regjistrohu

We describe the association of recurrent complicated febrile convulsions, developmental delay, ataxia, and obesity in three unrelated girls. The three girls, aged 3 to 4 years, were all born to healthy, nonconsanguineous parents and have normal siblings. Their birth weight was appropriate for

Pseudotumor cerebri presenting with ataxia and hyper-reflexia in a non-obese woman treated with sinus stenting.

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Identifikohuni Regjistrohu

OBJECTIVE To report a successful treatment of an atypical case of pseudotumor cerebri. BACKGROUND Pseudotumor cerebri is a disorder of raised intracranial pressure. Multiple Case Series have been published about its treatment with sinus stenting. All these cases have had typical

Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage

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SPG11 mutations lead to heterogeneous neurological phenotypes, but metabolic abnormalities have not yet been explored in this disease. In this study, we investigate whether SPG11 pathogenic variants might affect metabolic regulation, leading to weight changes and if this could relate to hypothalamic

A Rare Case of Cerebellar Ataxia Due to Voltage-Gated Calcium Channel and Glutamic Acid Decarboxylase Autoantibodies.

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Identifikohuni Regjistrohu

BACKGROUND Autoimmune cerebellar ataxia can be paraneoplastic in nature or can occasionally present without evidence of an ongoing malignancy. The detection of specific autoantibodies has been statistically linked to different etiologies. CASE REPORT A 55-year-old African-American woman with

Peripheral neuropathy and starvation after gastric partitioning for morbid obesity.

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Three months after gastric partitioning for morbid obesity, two patients developed an unusual and severe form of polyneuropathy that affected their sense of position maximally. This disorder produced severe ataxia of the upper extremities and trunk, and pseudochorea. One patient died and the autopsy

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

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Identifikohuni Regjistrohu

Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar

Opioid-induced linear running in obese (ob/ob) and lean mice.

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Identifikohuni Regjistrohu

Earlier research has shown that opioids stimulate behavioral activation in mice whereas opioid antagonists attenuate this activation. We conducted an experiment to determine the dose-response curve of FK33824, a potent Met-enkephalin analogue. FK33824 produced an unusual form of behavioral

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.

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Identifikohuni Regjistrohu

The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and

[Wernicke encephalopathy after subtotal gastrectomy for morbid obesity].

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Wernicke's encephalopathy (WE) is one of the potential complications of obesity surgery. It is an acute neuropsychiatric syndrome resulting from thiamine deficiency often associated with repeated vomiting. The classic triad is frequently reported in these patients (optic neuropathy, ataxia and

Wernicke's encephalopathy after vertical banded gastroplasty for morbid obesity.

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Identifikohuni Regjistrohu

Thiamine deficiency is known to lead to certain neurological sequelae including Wernicke- Korsakoff encephalopathy. Signs attributable to this condition include ataxia, ophthalmoplegia, nystagmus, and mental confusion. Recognised predisposing conditions include alcoholism gastric carcinoma, pyloric

Wernicke's Encephalopathy after Sleeve Gastrectomy for Morbid Obesity - A Case Report -.

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Identifikohuni Regjistrohu

Morbid obesity is a curable systemic disease that can cause several complications, including hypertension, diabetes mellitus, and osteoarthritis. However, it is not easy to control solely by conservative management. Bariatric surgeries, such as sleeve gastrectomy and gastric banding, are recently

Wernicke's encephalopathy following gastroplasty for morbid obesity.

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Identifikohuni Regjistrohu

BACKGROUND The syndrome of Wernicke's encephalopathy consists of two of four features of (1) dietary deficiency; (2) oculomotor abnormality; (3) cerebellar dysfunction; and (4) confusion or mild memory impairment. Predisposing risk factors include alcoholism, hyperemesis gravidarum and prolonged

Expanding the ataxia with oculomotor apraxia type 4 phenotype.

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Identifikohuni Regjistrohu

Ataxia with oculomotor apraxia type 4 (AOA4) is an autosomal recessive (AR) disorder recently delineated in a Portuguese cohort and caused by mutations in the PNKP (polynucleotide kinase 3'-phosphatase) gene.(1) AOA4 is a progressive, complex movement disorder that includes hyperkinetic features,

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