Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.
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PMID:[Neurologic manifestations in Wolfram's syndrome]. 833 58

The differential diagnosis of an acute peripheral vestibulopathy ("vestibular neuritis") and of an ischemic lesion in the cerebellar territory of the posterior-inferior cerebellar artery (PICA) is important. Both present with acute vertigo, vomiting, spontaneous nystagmus and difficulties in walking. We analyze the clinical, oculographic and NMR findings as well as the outcome in 10 patients with an ischemic stroke in the cerebellar territory of the PICA. On clinical grounds alone, it is not always possible to attribute the acute vestibular syndrome to a peripheral vestibular lesion or to a PICA insult. In our experience an important feature of a PICA insult is a discrepancy between the amount of vertigo, the severity of the walking difficulties, and the often weak and rapidly resolving spontaneous nystagmus. In contrast to a peripheral vestibulopathy, the vestibuloocular reflex is only minimally or not decreased in PICA insults, and gain asymmetries are accounted for by the presence of spontaneous nystagmus. However, only neuroimaging can finally differentiate between the two entities.
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PMID:[Acute vestibular syndrome in cerebellar infarct of the posterior inferior cerebellar artery (PICA infarct)]. 872 Jul 25