introduction: huntington disease (hd) is a progressive neurodegenerative disease which affects movement control system of the brain. hd symptoms lead to patient’s gait change and influence stride time intervals. in this study, we present a grey box mathematical model to simulate hddisorders. this model contains main physiological findings about bg. methods: we used artificial neural networks (a...

BACKGROUND Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke. CASE PRESENTATION A 56 years old man was transferred to our hospital bec...

Pseudohypoparathyroidism is an infrequently encountered disease. It is one of the causes of Fahr syndrome which also is a rare clinical entity caused by multiple diseases. A 4-year-old man hospitalized for sudden onset left hemiparesis and hypertension was diagnosed to have right thalamic and midbrain hemorrhage on plain CT scan of the head which also revealed co-existent extensive intracranial...

Twenty three patients with hemiballism and two with biballism were studied. Ischaemic and haemorrhagic strokes were the cause in most patients. Other causes were encephalitis, Sydenham's chorea, systemic lupus erythematosus, basal ganglia calcifications, non-ketotic hyperglycaemia, and tuberous sclerosis. Neuroimaging studies showed a lesion of the subthalamic nucleus in only six patients. In o...

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background: familial idiopathic basal ganglia calcification (ibgc) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. ibgc is genetically heterogeneous and slc20a2, on chromosome 8p21.1–8q11.23, is the first gene found in ibgc-affected patients with varied ancestry. on the other hand, several candidate genes for ibgc on chromosome 2q37, including t...

in this study, we focused on the gait of parkinson’s disease (pd) and presented a gray box model for it. we tried to present a model for basal ganglia structure in order to generate stride time interval signal in model output for healthy and pd states. because of feedback role of dopamine neurotransmitter in basal ganglia, this part is modelled by “elman network”, which is a neural network stru...

We report a case of 30-year-old man presenting chorea in his legs. A brain computed tomography (CT) scan showed bilateral symmetric calcifications in the basal ganglia, thalamus, cerebellum and subcortical white matter. Laboratory studies showed no abnormalities of serum calcium, phosphate, PTH, lactic acid, pyruvic acid and cerebrospinal fluid. Under the diagnosis of Fahr's disease (FD), we tr...

Pseudohypoparathyroidism (PHP) is characterized by resistance to the peripheral action of parathyroid hormone. We present a case of a seven-year-old girl who was admitted at the service of Instituto Materno Infantil de Pernambuco, IMIP, with motor episodes affecting the arms. Her calcium level was normal. Computed tomography showed calcifications in frontal lobes and basal ganglia. After six ye...