Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.

Dominant intermediate Charcot-Marie-Tooth neuropathy subtype C (DI-CMTC) was associated with mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, in two large unrelated Bulgarian and US pedigrees and one sporadic case. Here for the first time we describe the clinical, neurophysiological and histopathological features, and phenotypic differences between these two DI-CMTC families. Twenty-one affected individuals from the US family and 27 from the Bulgarian family were evaluated.

Evaluation of the efficacy of caffeine cessation, nortriptyline, and topiramate therapy in vestibular migraine and complex dizziness of unknown etiology.

Objective: The aim of this study was to evaluate the efficacy of a therapeutic pathway for vestibular migraine (VM) and complex dizziness of undetermined etiology (CDUE) with caffeine cessation and pharmacotherapy.

Study Design: This study is a retrospective chart review.

Intervention(s): Patients were recommended to stop intake of caffeine and other putative migraine-triggering agents.

The comparative usefulness of orthostatic testing and tilt table testing in the evaluation of autonomic-associated dizziness.

Objective: To elucidate the usefulness of clinical orthostatic blood pressure testing (COBP) as a screening tool for autonomic dysfunction.

Study Design: In this retrospective case review, the records of 156 consecutive patients with nonotologic dizziness as the primary complaint seen in an academic neurotology clinic between 2005 and 2009 were reviewed. The objective of this study was accomplished by comparing the diagnostic yield of COBP with that of head-upright tilt table testing (HUT) and assessing the sensitivity and specificity of COBP in predicting an abnormal HUT in patients with nonotologic dizziness.

Healthy brain aging: effect of head injury, alcohol and environmental toxins.

Head injury has been recognized as an increasingly important determinant of late-life cognitive function. Despite a large number of research and clinical studies, no direct link has been established between minor head trauma with or without loss of consciousness and the development of dementia of the Alzheimer type. Similarly for alcohol, low doses have been found to be somewhat protective against dementia, whereas large doses increased the risk of late-life cognitive dysfunction.

Paroxysmal sympathetic storm.

Introduction: Paroxysmal sympathetic storm (PSS) is a rare syndrome characterized by episodic hypertension, hyperhydrosis, hyperthermia, tachycardia, tachypnea, and extensor posturing.

Case Reports: This article describes two cases of PSS: one following traumatic brain injury and the other following cardiac arrest.

Discussion: The first responded to labetalol, morphine, and codeine, whereas the second responded to labetalol.

Distal symmetrical polyneuropathy: a definition for clinical research. A report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

The objective of this report was to develop a case definition of "distal symmetrical polyneuropathy" to standardize and facilitate clinical research and epidemiologic studies. A formalized consensus process was employed to reach agreement after a systematic review and classification of evidence from the literature. The literature indicates that symptoms alone have relatively poor diagnostic accuracy in predicting the presence of polyneuropathy; signs are better predictors of polyneuropathy than symptoms; and single abnormalities on examination are less sensitive than multiple abnormalities in predicting the presence of polyneuropathy.

Reversal of sympathetic failure due to cervical myelopathy in a patient with Down's syndrome.

We report a case of severe orthostatic hypotension in a 60-year-old patient with Down's syndrome presumably due to spinal cord compression secondary to atlantoaxial instability that resolved following surgical decompression; the mechanism of disease may be selective damage to the autonomic descending fibers.