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.

A do-it-yourself membrane-activated auditory feedback device for weight bearing and gait training: a case report.

An augmented auditory feedback device comprised of a thin membrane switch mini-buzzer, and battery is described as a modification of a previously described feedback device. The membrane switch can be customized for the patient and is designed to fit inside a patient's shoe without altering the heel height. Its appeal lies in its simplicity of construction, low cost, and ease of implementation during a patient's training for weight bearing and gait.

Paraplegia subsequent to administration of tissue plasminogen activator and intravenous heparin following myocardial infarction--a case report.

A case involving spinal epidural hematoma following tissue plasminogen activator and intravenous heparin therapy administered after acute myocardial infarction is reported here. The symptoms of spinal epidural hematoma following thrombolytic therapy are outlined and a recommended course of action for arriving at a definitive diagnosis of suspected epidural hematoma is provided.

The effects of circumferential wrist pressure on reproduction accuracy of wrist placement in healthy young and elderly adults.

Background: The purpose of this study was to determine the effect of circumferential wrist pressure on reproduction accuracy of wrist placement in healthy young and elderly adults. A convenience sample of 20 young adults having a mean age of 22.9 years and 20 elderly adults with a mean age of 68.

An augmented auditory feedback device.

An augmented auditory feedback device is described. The device can be easily and economically constructed and implemented during a patient's physical rehabilitation. The rationale is to provide an external source of information to the user in order to correct errors during weight-bearing activities.

Effects of contextual interference and conditions of movement task on acquisition, retention, and transfer of motor skills by women.

This experiment was designed to investigate varying conditions of contextual interference within two different conditions of movement tasks during acquisition on the acquisition and retention of a computerized task and transfer to a functional skill. Performance of head movements was conducted under open- or closed-task conditions and with random or blocked schedules of practice. Analysis indicated that learning under the open-task condition resulted in better retention and transfer than the closed-task condition.

Motor/psychomotor dysfunction in normal aging, mild cognitive decline, and early Alzheimer's disease: diagnostic and differential diagnostic features.

To determine the association between cognitive dysfunction and motor behavior in older adults, 41 cognitively normal elderly (NL), 25 nondemented patients exhibiting mild cognitive impairment (MI) and at risk for future decline to dementia, and 25 patients with mild (early) Alzheimer's disease (AD) were examined using a wide array of motor/psychomotor and cognitive assessments. The three groups were recruited from an aging and dementia research center and were composed of well-characterized physically healthy volunteers, with similar ages and gender distributions. The outcome measures included 16 motor/psychomotor tests categorized a priori into gross, fine, and complex, as well as eight cognitive tests of memory and language.

Patterns of motor impairement in normal aging, mild cognitive decline, and early Alzheimer's disease.

In order to determine the relationship between cognitive dysfunction and motor behavior in older adults, 41 cognitively normal elderly (NL), 25 cases exhibiting mild cognitive impairment (MI), and 25 patients with mild Alzheimer's disease (AD) were examined using a broad array to motor/psychomotor and cognitive tests. Relative to the NL group, MI individuals (at risk for future decline to AD) performed worse on tasks involving fine and complex motor function (e.g.

Nonspecific leukoencephalopathy associated with aging.

With advancing age, the periventricular and subcortical white matter becomes susceptible to a heterogeneous assortment of tissue alterations that cannot be easily categorized in terms of traditionally defined neuropathologic disease. These alterations, which appear radiolucent on CT and hyperintense on T2-weighted MR imaging, are more common in patients with chronic hypertension and perhaps other microvascular arteriosclerotic risk factors. Examination of the affected tissue reveals a spectrum of histologic change that is graded with respect to pathologic severity.

Effect of video feedback on the performance of a weight shifting controlled tracking task in subjects with parkinsonism and neurologically intact individuals.

This study compared the performance of a visual motor task, accomplished by standing weight shifting, of 34 people with Parkinson's disease (P.D.) and 34 neurologically intact (N.

A noninvasive technique to assess completeness of spinal cord lesions in humans.

The effect of scalp stimulation delivered through electrodes overlying the motor cortex was evaluated in five healthy subjects and six patients with traumatic spinal cord injury. The latency to the onset of the electromyographic response was measured in the biceps brachii and abductor pollicis brevis muscles. In all the patients, latencies to the muscle (biceps brachii) whose innervation originated above the lesion were in the normal range; whereas, latencies to the muscle (abductor pollicis brevis) whose innervation originated below the lesion were prolonged.

Individual differences in ability to use EMG-derived feedback.

Evidence shows statistically reliable individual differences among unimpaired subjects in ability to use visual representation of electromyographic voltages. The visual information was displayed as a cursor in a tracking situation. The cursor was then blanked, with subjects being required to place the now invisible cursor over a target.

Visually displayed EMG feedback: single case studies of hemiplegic upper extremity rehabilitation.

The efficacy of visually displayed EMG feedback in treating hemiplegic upper limb motor disorders was investigated in 5 patients (0.5-4 years poststroke). A single case experimental method "multiple-baseline across target behaviors" was used to compare performance during the feedback phase to that occurring in the monitored baseline phase.

Helping hemiparetics to help themselves. Sensory feedback therapy.

Despite the presence of some voluntary movement, the loss of discrete control impairs functioning of the arm and hand in most hemiparetics. Seventy hemiparetic patients, aged 12 to 78 years, were treated and followed up for six months to three years. Electromyographic activity monitored from dysfunctional primary movers during attempted movement was displayed to the patients as a continuous oscilloscopic trace, reflecting generated muscle activity and allowing its quantification.