Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment.

Purpose: To evaluate the safety and efficacy of miglustat in patients with GM2 gangliosidosis.

Methods: A randomized, multicenter, open-label, 12-month study involving patients aged 18 years or older, randomized 2:1 to miglustat (200 mg TID) or "no miglustat treatment." This study was followed by 24 months of extended treatment during which all patients received miglustat.

Clinical features of MCI: motor changes.

Mild cognitive impairment (MCI) is a classification reserved for nondemented elderly individuals at increased risk for future decline to dementia, compared to those with normal cognition. Cognitive tests, particularly those assessing verbal recall, have been found to be useful in the identification of elderly people with MCI. We argue that a variety of motor/psychomotor evaluations are also sensitive to MCI.

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.

Background And Purpose: Despite the ubiquity of G(M2) gangliosides accumulation in patients with late-onset G(M2) gangliosidosis (G(M2)G), the only clinical MR imaging-apparent brain abnormality is profound cerebellar atrophy. The goal of this study was to detect the presence and assess the extent of neuroaxonal injury in the normal-appearing gray and white matter (NAGM and NAWM) of these patients.

Methods: During a single imaging session, 9 patients with late-onset G(M2)G and 8 age-matched normal volunteers underwent the following protocol: (1) T1- and T2-weighted and fluid-attenuated inversion recovery MR images, as well as (2) multivoxel proton MR spectroscopy (1H-MR spectroscopy) to quantify the distribution of the n-acetylaspartate (NAA), creatine (Cr), and choline (Cho), were obtained.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Purpose: The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses.

Methods: A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed.

Test-retest reliability in performance of persons with hemiparesis tracking by means of compatibly displayed myoelectric feedback derived from upper limb muscles.

The aim of this study was to assess whether persons with hemiparesis will yield statistically reliable test-retest tracking performance on a procedure using limb-generated, compatibly displayed, myoelectric video feedback. A convenience sample of 50 inpatients and outpatients with upper extremity involvement of at least six months were recruited. 30 had hemiparesis and had both upper extremities tested.

Test-retest reliability of the functional rotation test in healthy adults.

Test-retest reliability and concurrent validity for a Functional Rotation Test, developed as a clinical tool for quantifying the extent of body rotation while sitting or standing, were evaluated with healthy adults in this study. Participants, ages 20 to 72 years (n = 36) donned laser-pointing devices, stood or sat in the center of a room calibrated for the test, and actively turned and pointed to the right (or left) as far as they could comfortably. The locations of the lasers were recorded and subsequently scored.