Search results for "Miple"

Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

Multi-Sensorimotor Training Improves Proprioception and Balance in Subacute Stroke Patients: A Randomized Controlled Pilot Trial

2019

Introduction: The objective was to determine whether advanced rehabilitation therapy combined with conventional rehabilitation therapy consisting of sensorimotor exercises would be superior to usual treadmill training for proprioception variation and balance ability in subacute stroke patients. Methods: Thirty subjects (post-stroke time period: 3.96 ± 1.19 months) were randomly assigned to either a multi-sensorimotor training group (n = 19) or a treadmill training group (n = 18). Both groups first performed conventional physical therapy for 30 min, after which the multi-sensorimotor training group performed multi-sensorimotor training for 30 min, and the treadmill training group performed t…

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

2003

Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28 cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we ex…

Analysis of F response in upper motoneurone lesions

2009

The F response can provide a measure of motoneurone excitability (MNE) and so it may be used to investigate upper motoneurone disorders. This report studies the F-wave configuration in patients with stroke to evaluate the changes of the central excitability of the motoneurones at different times after an acute cerebral insult. Various parameters of the F response, including amplitude (absolute and F%/M), duration, and persistence have been determined in 26 patients with unilateral hemiplegia and in 32 healthy subjects of both sexes in the same age range. The investigation was carried out applying a series of 20 supramaximal stimuli at 0.5 Hz on tibial and ulnar nerves bilaterally. In all pa…

A case of atypical sporadic hemiplegic migraine associated with PFO and hypoplasia of vertebro-basilar system.

2009

We describe the case of a patient with atypical hemiplegic migraine and associated basilar symptoms, where a large patent foramen ovale (PFO) and hypoplasia of basilar artery were found. The longer period of 4-year remission of the headache attacks was coincident with the percutaneous PFO closure. When 5 years after, hemiplegic migraine attacks relapsed, with more relevant basilar symptoms, a mild re-opening of PFO was found. The atypical presentation of attacks with basilar symptoms and prolonged hemiplegia does not strictly fit the diagnostic criteria of ICHD-II.

Benign Nocturnal Alternating Hemiplegia Of Childhood: A New Case.

2009

Stronger proprioceptive BOLD-responses in the somatosensory cortices reflect worse sensorimotor function in adolescents with and without cerebral pal…

2020

Graphical abstract

Familial Hemiplegic Migraine: Neuropsychologic Phenotypes

2011

A new methodology based on functional principal component analysis tostudy postural stability post-stroke

2018

[EN] Background. A major goal in stroke rehabilitation is the establishment of more effective physical therapy techniques to recover postural stability. Functional Principal Component Analysis provides greater insight into recovery trends. However, when missing values exist, obtaining functional data presents some difficulties. The purpose of this study was to reveal an alternative technique for obtaining the Functional Principal Components without requiring the conversion to functional data beforehand and to investigate this methodology to determine the effect of specific physical therapy techniques in balance recovery trends in elderly subjects with hemiplegia post-stroke. Methods: A rand…

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

2022

Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Ital…