Sleep–wake problems in patients with amyotrophic lateral sclerosis: implications for patient management

SUMMARY Sleep–wake problems are frequent, although unrecognized, complications of amyotrophic lateral sclerosis (ALS). Sleep disorders such as insomnia, sleep-disordered breathing and restless legs syndrome have all been reported in patients with ALS, despite the limited number of studies and the small populations investigated so far. Sleep disturbances gradually worsen with disease progression, suggesting a relationship between the severity of disease and the neurodegenerative process. However, poor sleep can also be a consequence of several disturbances such as anxiety, depression, pain, choking, sialorrhea, fasciculations, cramps, nocturia and the inability to get comfortable and move f…

THORACIC SYRINGOMYELIA IN A PATIENT WITH AMYOTROPHIC LATERAL SCLEROSIS

We report a patient with bulba r - onset, clinically defined, sporadic amyotrophic lateral sclerosis bearing an isolated syringomyelia of the lower thoracic portion of the spinal cord. This is a very unusual association between two rare and progressive disorders, both affecting the spinal motoneurons. Syringomyelia might have acted as a phenotypic modifier in this ALS patient.

Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis

Background and purpose: Tauroursodeoxycholic acid (TUDCA) is a hydrophilic bile acid that is produced in the liver and used for treatment of chronic cholestatic liver diseases. Experimental studies suggest that TUDCA may have cytoprotective and anti-apoptotic action, with potential neuroprotective activity. A proof of principle approach was adopted to provide preliminary data regarding the efficacy and tolerability of TUDCA in a series of patients with amyotrophic lateral sclerosis (ALS). Methods: As a proof of principle, using a double-blind placebo controlled design, 34 ALS patients under treatment with riluzole who were randomized to placebo or TUDCA (1 g twice daily for 54 weeks) were e…

THE PALMOMENTAL REFLEX IN AMYOTROPHIC LATERA SCLEROSIS

The Primitive Palmomental Reflex in Amyotrophic Lateral Sclerosis

<b><i>Background and Purpose:</i></b> The palmomental reflex (PMR) is a primitive reflex that might be released due to inhibition in adulthood. It has been associated with several neurodegenerative conditions. The aim of the present study was to evaluate the frequency of PMR in amyotrophic lateral sclerosis (ALS). <b><i>Patients and Methods:</i></b> Non-demented ALS patients (<i>n</i> = 179) were recruited. Two groups of disease controls were enrolled: (a) non-demented patients with other neurological disorders (NC;<i> n</i> = 86, mean age 60 ± 14 years); (b) healthy subjects, healthy controls (HC; <i>n</i> …

Sporadic Parkinson disease and amyotrophic lateral sclerosis complex (Brait-Fahn-Schwartz disease).

Clinical evidence for parkinsonism may accompany Amyotrophic Lateral Sclerosis with a frequency ranging from 5% to 17%. The concurrence of Amyotrophic Lateral Sclerosis and Parkinson's disease, outside the known Guam and Kii Peninsula foci, is instead rare, but this raises the possibility of a common pathogenesis. Clinically this complex presents with a levodopa-responsive parkinsonism and Amyotrophic Lateral Sclerosis and has been termed Brait-Fahn-Schwartz disease. Here we describe two patients with this uncommon neurodegenerative complex. Both presented with Parkinson disease and progressed to a full blown Amyotrophic Lateral Sclerosis. We further suggest that the association of Parkinso…

FACTORS AFFECTING THE DIAGNOSTIC DELAY IN AMYOTROPHIC LATERAL SCLEROSIS

Abstract Background Although amyotrophic lateral sclerosis (ALS) is a relentlessly progressive disorder, early diagnosis allows a prompt start with the specific drug riluzole and an accurate palliative care planning. ALS at onset may however mimic several disorders, some of them treatable ( e.g. , multifocal motor neuropathy) or epidemiologically more frequent ( e.g. , cervical myelopathy). Objective To study the delay from onset to diagnosis in a cohort of ALS patients and to the variables that may affect it. Methods We performed a retrospective analysis of the diagnostic delays in a cohort of 260 patients affected by ALS (M/F = 1.32) followed at our tertiary referral ALS Center between 20…

Diabetic thoracic radiculopathy: a case of a young woman with clinical improvement following immunotherapy.

Thoracic radiculopathy is a rare cause of thoracic-abdominal or abdominal pain in subjects with poorly controlled diabetes. We present a case of a young woman with type I diabetes and a severe abdominal pain in both lower quadrants. An extensive diagnostic gastroenterological and gynaecological workup did not disclose abnormalities. Electromyography revealed an initial polyneuropathy and significant neurogenic abnormalities in the T10-T12 paravertebral muscles. Following the hypothesis that the radiculopathy-related abdominal pain might have an immuno-mediated pathogenesis, the patient underwent a complex trial of immunotherapy, which was accompanied by a sustained improvement over months t…

Incidence of amyotrophic lateral sclerosis in Sicily: A population based study

Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in fi ve Sicilian provinces, whose onset occurred in the two-year period 2005 2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-fi nding procedure was adopted and patients were classifi ed as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33 1.47). The incidence rate was h…