Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes.

OBJECTIVE: To assess the evolution and life expectancy in patients with oculopharyngeal muscular dystrophy (OPMD) who are homozygotes for two (GCN)13 expansions in the PABPN1 encoding gene. BACKGROUND: OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation. The high rate of consanguinity among UJs together with late disease onset and normal fertility results in homozygous cases. METHODS: For 15 to 20 years, we followed 4 FC and 6 UJ homozygotes with OPMD and compared them with their heterozygous parents and siblings. In addition to clinical evaluation, electrodiagnostic tests, psychological tests, and brain imaging studies were performed. RESULTS: In all (GCN)13-(GCN)13 patients, OPMD started before age 35 years, with bilateral ptosis and dysphagia; external ophthalmoparesis and dysphonia followed within a few years, as well as weakness in proximal limb muscles. All patients had recurrent aspirations and lost weight; 4 patients required surgical interventions to alleviate dysphagia, and 5 required feeding gastrostomies. Most patients were followed by psychiatrists due to cognitive decline, recurrent depression, or psychotic episodes. Six patients died at ages 50, 51, 53, 56, 56, and 57 years. The eldest patient is now 51 years old; she is cachectic and requires special diet and psychiatric care for paranoid psychosis and uninhibited behavior. CONCLUSIONS: Oculopharyngeal muscular dystrophy progresses faster in homozygote compared with heterozygote patients. It is not restricted to the muscles, but also involves the CNS with cognitive decline and psychotic manifestations and leads to a reduced life expectancy.

Characterization of chronic pain and somatosensory function in spinal cord injury subjects.

The pathophysiology of the chronic pain following spinal cord injury (SCI) is unclear. In order to study it's underlying mechanism we characterized the neurological profile of SCI subjects with (SCIP) and without (SCINP) chronic pain. Characterization comprised of thermal threshold testing for warmth, cold and heat pain and tactile sensibility testing of touch, graphesthesia and identification of speed of movement of touch stimuli on the skin. In addition, spontaneously painful areas were mapped in SCIP and evoked pathological pain--allodynia, hyperpathia and wind-up pain evaluated for both groups. Both SCIP and SCINP showed similar reductions in both thermal and tactile sensations. In both groups thermal sensations were significantly more impaired than tactile sensations. Chronic pain was present only in skin areas below the lesion with impaired or absent temperature and heat-pain sensibilities. Conversely, all the thermally impaired skin areas in SCIP were painful while painfree areas in the same subjects were normal. In contrast, chronic pain could be found in skin areas without any impairment in tactile sensibilities. Allodynia could only be elicited in SCIP and a significantly higher incidence of pathologically evoked pain (i.e. hyperpathia and wind-up pain) was seen in the chronic pain areas compared to SCINP. We conclude that damage to the spinothalamic tract (STT) is a necessary condition for the occurrence of chronic pain following SCI. However, STT lesion is not a sufficient condition since it could also be found in SCINP. The abnormal evoked pain seen in SCIP is probably due to neuronal hyperexcitability in these subjects. The fact that apparently identical sensory impairments manifest as chronic pain and hyperexcitability in one subject but not in another implies that either genetic predisposition or subtle differences in the nature of spinal injury determine the emergence of chronic pain following SCI.

Long-term morbidity and mortality after spinal cord injury: 50 years of follow-up.

OBJECTIVE: To determine the long-term mortality rate and the types of morbidity among all people with spinal cord injuries (SCI) that occurred during the 1948 Israel War of Independence. METHOD: Chart review and telephone interviews for collecting demographic data, injury characteristics, marital status, physical activities, employment, morbidity and mortality. RESULTS: Twenty individuals with SCI (19 males, one female). There was no regular follow-up during the first 20 years post injury. The most frequent morbidities were genito-urinary, cardiovascular and decubiti. Ten (50%) had died during this overall follow-up interval. The average age at death was 60 years. The cause of death was cardiovascular in six, neoplastic disease in two, pneumonia in one, and one died from an unknown cause. CONCLUSIONS: The data analysis showed that those who died participated less in physical activity and fewer were employed as compared to the survivors.

Slow ascending myelopathy, tetraplegia, carcinoma of the bladder and amyloidosis in a patient with ankylosing spondylitis.

OBJECTIVE: We report a case of slow ascending myelopathy in a patient with ankylosing spondylitis (AS). DESIGN: Case report of a 60-year-old patient suffering from AS, who developed over a period of 39 years a slow ascending myelopathy leading to tetraplegia, squamous cell carcinoma of the bladder and amyloidosis of the small intestine secondary to neuropathic bladder and bowel. SETTING: Department and Outpatient's Department of Neurological Rehabilitation Sheba Medical Center, Tel Hashomer, Israel. SUBJECT: Single patient case report. MAIN OUTCOME MEASURE: Clinical follow-up of the patient between the years 1959 - 1998. RESULTS: Physical examination disclosed deteriorating incomplete tetraplegia with hypotonia and hyporreflexia. Neurogenic bladder and bowel complicated to squamous cell carcinoma and amyloidosis. CONCLUSION: To our knowledge, flaccid tetraplegia associated with AS, has never been reported in the literature. The possibility of vascular compression by the ankylosed spine causing the clinical picture of flaccid tetraplegia in this patient is discussed.

Acute pain threshold in subjects with chronic pain following spinal cord injury.

Studies of pain perception in patients with chronic pain have yielded contradictory results. While several studies found that acute pain threshold is raised in chronic pain subjects, others showed that these subjects exhibit a decreased pain threshold compared to pain free subjects. The aim of this study was to further examine this topic by studying pain perception in subjects with chronic pain following partial or complete spinal cord injury (SCI). We found a significant elevation of heat-pain threshold (measured above the level of lesion) in complete SCI subjects with chronic pain (CSCIP) as opposed to complete SCI subjects without pain, incomplete SCI subjects with (ISCIP) and without chronic pain and normal controls. This elevation of pain threshold was completely reversed following a complete relief of the chronic pain by DREZ lesion. Moreover, the CSCIP exhibited significantly higher scores in the McGill pain questionnaire compared to ISCIP, indicative of a more intense chronic pain perceived by these subjects. In addition, the chronic pain below the level of spinal lesion, reported by CSCIP originated from a significantly larger body area than that of ISCIP. These results indicate that a critical level of chronic pain must be perceived in order to induce an elevation in acute pain threshold.

Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel.

Oculopharyngeal muscular dystrophy (OPMD) is considered frequent among French Canadians. Our previous observations suggested it is common also among the Jews originating from Bukhara in Uzbekistan, many of whom are now living in Israel. One hundred and seventeen OPMD patients were identified in a population of 70,000 people of Bukharian descent, resulting in a calculated minimal prevalence of 1:600. In all but three families age dependent autosomal dominant inheritance was documented. There is some evidence for genetic anticipation. Three young, severely ill, patients from two different families may be homozygotes, their parents being both affected. Bukhara Jews present the second largest known cluster and the prevalence is the highest in the world. The existence of very large families, intermarriage among carriers and probably homozygote offspring may be useful for genetic studies. A 'founder effect' may explain the high prevalence of OPMD in this population.

Paraplegia following surgical correction of scoliosis with Cotrel-Dubousset instrumentation.

Three patients with paraplegia following corrective surgery for idiopathic scoliosis, using the Cotrel-Dubousset (CD) instrumentation, were admitted to our department over a period of 22 months. They were operated on by three different surgeons and they were the first serious neurological complications in these surgeons' careers. The monitoring method was the "wake-up" test, applied at the end of the correction maneuver with the instrument. One patient presented paraplegia at the "wake-up" test and the other two were paraplegic shortly after ceasing anesthesia. Electrophysiological spinal cord monitoring during surgery may reduce the risks of complications.

[Stroke in the young].

31 young patients who were hospitalized and rehabilitated after acute cerebral stroke, we are reassessed. In 58% there was a wide array of underlying diseases and risk factors, while in the others the cause could not be established. 74% suffered from nonhemorrhagic, thrombotic or embolic phenomena and 25% from intracerebral or subarachnoid hemorrhage. There were no alarming preceding signs. After an average of 31 months following the cerebrovascular accident, more than 90% were independent in all daily living activities. Functional outcome did not depend on the underlying disorder.

Acute transverse myelitis, a possible vascular etiology.

Seven acute transverse myelitis patients are presented, in whom the course of illness suggests a vascular pathogenesis. In the absence of predisposing risk factors for vascular accidents and such systemic symptoms as occur frequently in vasculitic syndromes, association in hypothesized with isolated angiitis of the central nervous system. Combined treatment with corticosteroids and cyclophosphamide is, therefore, suggested for severe cases of acute transverse myelitis, in whom no etiology can be found.