Therapy of episodic ataxias: case report and review of the literature.

Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Specific pharmacological therapies are available for EA1 and especially EA2. We briefly discuss the case of an Italian young man with EA2, with a novel de novo CACNA1A mutation, who in our opinion is particularly illustrative for introducing the therapeutic approach. Acetazolamide could fully suppress EA episodes in our patient. We also provide a perspective review of the topic. 4-Aminopyridine is another valid treatment option. For EA1 (and for rarer EAs), the therapeutic possibilities are more limited. Carbamazepine is probably the treatment of choice for EA1, but the optimal treatment plan is unknown. A better understanding of the molecular processes involved in the mediation of EAs will lead to more specific and efficacious therapies for this still elusive group of disorders.

Limb Shaking Transient Ischemic Attacks with Normal Neurovascular Ultrasound may Herald Cardioembolic Stroke: A Case Report.

Our objective is to highlight that the rare occurrence of limb shaking in transient ischemic attacks may be underpinned by etiologies other than critical internal carotid stenosis/occlusion. We describe a 74 year-old woman with abrupt left arm jerking and normal urgent computed tomography scan, electroencephalography (EEG) as well as carotid and transcranial ultrasound. Two days later she developed an overt ischemic stroke, with left mesencephalon and left cerebellar hemisphere lesions at brain magnetic resonance imaging and paroxysmal atrial fibrillation at Holter-EKG. Transient ischemic attacks should be considered in the differential diagnosis of limb shaking even in patients with normal carotid and transcranial ultrasonography.

Relevance of cognitive deterioration in early relapsing-remitting MS: a 3-year follow-up study.

OBJECTIVE: To assess longitudinally cognitive functioning in relapsing-remitting multiple sclerosis (RRMS) patients and its relationship with clinical and MRI variables. METHODS: Early RRMS patients and matched healthy controls were assessed in parallel in three testing sessions over 3 years, using the Rao's Brief Repeatable Battery of Neuropsychological Tests. Patients also underwent an MRI analysis of T2-weighted lesion volume (T2LV), number of gadolinium-enhanced lesions and whole brain atrophy. Forty-nine RRMS patients (mean age 36.9 ± 8.9 years; mean disease duration 2.9 ± 1.7 years, mean Expanded Disability Status Scale, 1.7 ± 0.7) and 56 healthy controls were recruited. RESULTS: At baseline, cognitive impairment was detected in 15 patients (30.6%). After 3 years, cognitive functioning worsened in the 29.3% of patients, whereas Expanded Disability Status Scale progression was observed in only three patients. The most sensitive test to detect cognitive deterioration over time was the Symbol Digit Modalities Test (SDMT). Only the presence of moderate cognitive impairment at baseline predicted further cognitive deterioration (p = 0.03). Among MRI variables, T2LV showed a weak to moderate relationship with some cognitive tasks. CONCLUSIONS: Over a 3-year period cognitive deterioration can be expected in approximately one-third of MS patients with relatively short disease duration. The SDMT is particularly suitable for longitudinal assessment of MS-related cognitive changes.

Reliability, practice effects, and change indices for Rao's Brief Repeatable Battery.

The role of cognitive impairment in multiple sclerosis is now widely recognized. However, there is a dearth of research on variability and practice effects of neuropsychological measures when repeated over time. The objective was to assess reliability and practice effects for Rao's Brief Repeatable Battery of neurophysiological tests and the Stroop Test, and to provide data for correction for variability and practice effects in serial assessments.In 54 healthy controls (34 women, mean age 38.3 +/- 9.1 years, mean education 12.9 +/- 3.3 years), the Brief Repeatable Battery and Stroop Test were administered 3 times with an 18-month interval. Reliability was assessed by intraclass correlation coefficient and practice effects by an analysis of variance with Bonferroni's correction for repeated measures. Test-retest reliability was from adequate to good on the Symbol Digit Modalities Test, the Stroop Test, and the Paced Auditory Serial Addition Test. The great majority of tests showed at least a moderate practice effects. Data for calculation of an individual's change in cognitive performance for each test of the Brief Repeatable Battery and the Stroop Test were provided. Our results provide relevant information for planning and interpreting longitudinal studies on cognition and cognitive rehabilitation in multiple sclerosis.