Hexosaminidase A activity and amyotrophic lateral sclerosis.

Abnormalities of GM2 ganglioside metabolism owing to hexosaminidase A (Hex A) deficiency have been associated with ALS phenotypes. The clinical features described in these ALS patients with Hex A deficiency include early onset, positive family history, and/or long disease duration. In an attempt to determine prospectively the incidence of Hex A deficiency within an ALS population, the records of The Mount Sinai Medical Center ALS Clinic were reviewed to select those patients with "atypical" ALS (total N = 52), i.

Abnormal glutamate metabolism in amyotrophic lateral sclerosis.

Glutamate levels were determined in the fasting plasma of 22 patients with early-stage primary amyotrophic lateral sclerosis (ALS) and compared to those of healthy and diseased controls. There was a significant increase (by approximately 100%, p less than 0.0005) in the plasma glutamate of the ALS patients as compared with the controls.

Amyotrophic lateral sclerosis. Its natural history.

ALS is the most common of the various MNDs, which also include the clinical entities of PBP, PMA, and PLS. Mean age of onset of ALS is 57 years, and there is a sex predilection for men in a ratio of 1.5:1.

Quantitative cerebrospinal fluid IgG measurements as a marker of disease activity in multiple sclerosis.

The value of various parameters of reporting quantitative cerebrospinal fluid (CSF) IgG levels to indicate disease activity in 34 patients with clinically definite multiple sclerosis was examined. IgG alone correlated significantly with increasing degree of disability and increasing number of clinical central nervous system lesions. There was also a trend toward higher mean IgG levels when the course was relapsing and progressive as opposed to progressive or relapsing.

A double-blind, placebo-controlled trial of TRH in amyotrophic lateral sclerosis.

A double-blind, placebo-controlled trial of single doses of thyrotropin releasing hormone (TRH) was performed on 12 patients with amyotrophic lateral sclerosis. Each patient was given subcutaneous injections of TRH 150 mg or placebo, and IV infusions of TRH 500 mg or placebo at 72- to 96-hour intervals. Eight motor and functional ratings were scored at regular intervals after each injection.

ALS and pet exposure.

To examine animal exposure in ALS patients, a case-control study was undertaken on 40 ALS patients and 40 closely matched controls. Exposure to pets of any kind and to small dogs in the period from birth until 10 years before onset of ALS symptoms was significantly increased. Affected men showed a trend toward increased exposure to neurologically ill pets, but there was no significant difference when male and female cases were grouped.

Quantitative CSF IgG measurements in multiple sclerosis and other neurologic diseases. An update.

To compare four ways of measuring CSF IgG levels in diagnosing multiple sclerosis (MS), we analyzed CSF samples of 106 patients with clinically definite, probable, or possible MS and 127 patients with other diseases. The IgG synthetic rate and IgG index were the most sensitive tests at 0.88 and 0.

Amyotrophic lateral sclerosis: a comprehensive rehabilitation approach.

A clinic was established at The Mount Sinai Medical Center and staffed by a multidisciplinary team to assess the feasibility of caring for the patient with amyotrophic lateral sclerosis (ALS) through an outpatient facility. Three hundred ALS patients were evaluated and followed in a 3-year period. Each patient was viewed as an individual, and the establishment of four clinical neurologic scales (or stages) proved helpful in tracking declining functional performance and in the establishment of suggestions for care.

Eye movements in amyotrophic lateral sclerosis.

It has generally been assumed that the oculomotor system is not involved in amyotrophic lateral sclerosis (ALS). However, reports from the literature and recent experience with patients indicate that there are oculomotor abnormalities in some ALS patients. These appear to fall into two main categories.

Subarachnoid hemorrhage secondary to spinal arteriovenous malformation and aneurysm. Report of a case and review of the literature.

A patient with recurrent subarachnoid hemorrhage was seen initially with intermittent signs and symptoms of intracranial and spinal cord dysfunction. Myelography and spinal angiography revealed an arteriovenous malformation (AVM) and aneurysm of the spinal cord. Extensive investigation failed to reveal any intracranial lesion.

Progressive myelopathy due to sarcoid.

A patient developed a progressive paraparesis after a bout of uveitis and parotitis; and lung biopsy was diagnostic of sarcoidosis. A myelogram was normal on two occasions. Spinal tap revealed an elevated protein, a pleocytosis and a low glucose, and a diagnosis of sarcoidosis of the spinal cord made.