BACKGROUND Differentiating movement disorders is critical for appropriate treatment, prognosis, and for clinical trials. In clinical trials this is especially important as effects can be diluted by inclusion of inappropriately diagnosed participants. In early disease duration phases, disorders often have overlapping clinical features, such as impairments in repetitive finger movement, making di...

Friedreich’s ataxia (FRDA) is a form of neuropathy that was fi rst described by Nikolaus Friedreich in a series of 5 papers published from 1863-1877 (1). Freidreich was a third generation physician from Heidelberg, Germany. His grandfather was the fi rst to describe idiopathic facial paralysis, also known as Bell’s palsy. Friedreich trained to be a pathologist under Rudolf Virchow, who proposed...

vealed elevated protein level of 72 mg/dl and 3 white blood cells with no neoplastic cells, therefore providing no evidence of malignancy or CNS infection. Antiepileptic medications were started, and the patient underwent a right temporal brain and leptomeningeal biopsy. Pathology revealed idiopathic leptomeningeal inflammation and fibrosis without brain involvement. The patient improved clinic...

BACKGROUND It is unknown whether multiple system atrophy of the cerebellar type (MSA-C) and idiopathic cerebellar ataxia with extracerebellar presentation (IDCA-P) represent distinct entities. OBJECTIVE To investigate the discriminative validity of magnetic resonance imaging in sporadic cerebellar ataxia. DESIGN Basal ganglia and infratentorial structures were screened for signal abnormalit...

A 21 year old man with a family history of gout and neurological deficits, developed severe idiopathic congestive cardiomyopathy after a long history of typical gouty attacks and neurological abnormalities. Clinical and laboratory evaluations showed borderline mental retardation, ataxia, sensorineural deafness, marked hyperuricaemia, and excessive uric acid excretion in the presence of impaired...

A 41-year-old woman with idiopathic thrombocytopenic purpura and dyslipidemia abruptly developed vertigo, truncal ataxia and divergence paralysis. Cranial magnetic resonance imaging demonstrated the presence of infarction in the left superior paramedian mesencephalic artery involving the vicinity of the periaqueductal gray matter. The symptoms rapidly resolved under the administration of anti-p...

We report a case of a 22-year-old female student nurse who presented to hospital with an acute neuro-ophthalmological syndrome characterized by papilledema, ataxia, ophthalmoplegia and headache after a single first time use of 150 mg medroxyprogesterone intramuscular injection. Clinical, laboratory, radiological and ophthalmological investigations were in keeping with the diagnosis of idiopathi...

Cases of pancreatitis in children in the Newcastle Regional Board area were studied over approximately 6 years. There were 9 cases aged between 6 weeks and 15 years. In 5 children (all under 7 years of age) likely aetiological factors were found (2 cases of mumps and 1 case wach due to trauma, measles, and hereditary pancreatitis). In 4 children all over 13 years of age no likely aetiological f...

the patient was a 22-year-old female with ataxia-telangiectasia presented with progressive dysphagia to solid food from 2 months ego. she had lost 17 kg in that period. physical findings were cachexia, telangiectasias of sclera, ataxia in limbs movements and epigastric tenderness.there was a tumoral lesion in gastric lesser curvature with extension to esophagogastric junction in endoscopy. path...