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Background: Although ulnar neuropathy at the elbow (UNE) is the second most frequent focal peripheral neuropathy of the upper limb after carpal tunnel syndrome (CTS), no figures on its prevalence or incidence in the general population have been reported., Objective: To determine the incidence of UNE in a general population., Methods: Retrospective study to identify newly diagnosed cases on the basis of clinical symptoms or signs and slowing of motor conduction velocity of the ulnar nerve across the elbow or surgical evidence of nerve compression in the elbow region. In the 5-year period from 1995 to 1999, cases among residents in Siena Province (Italy) were identified from medical records of electromyographic services of Local Health District no. 7 and from hospital medical records coded ICD 354.2, 04.49 and 04.6. Siena province has a population of 251,930., Results: In the 5-year period, 311 cases (112 women and 199 men, mean age 56 years, range 15-86) were identified. The mean annual crude incidence was 24.7 cases per 100,000 person-years, and the standardized incidence was 20.9. The sex-specific incidences were 32.7 for men and 17.2 for women. The mean annual crude and sex-specific incidences remained constant during the study period. The age-specific incidences of whole population and both genders showed an increasing trend with decade of age. The incidence of "possible", "probable" and "definite" UNE cases, classified according to level of motor conduction velocity anomalies and evidence of surgical compression of the ulnar nerve at the elbow, was 4.3, 10.6, and 9.8, respectively. The residents of a health subdistrict where manual work is dominant had a higher male-specific incidence (57.1) than other areas., Conclusions: This is the first published study on the incidence of UNE. The incidence was higher in males than females and about one-thirteenth that reported for CTS in part of the present geographic area.

Calcineurin (CaN) is a Ser/Thr protein phosphatase involved in a wide range of cellular responses to calcium mobilizing signals. Previous evidence supports the notion that calcineurin is oxidatively inhibited by mutant Cu, Zn superoxide dismutase (SOD1) typical of familial ALS patients in vitro and in transgenic mice. We report that calcineurin activity is markedly inhibited in lymphocytes from 37 sporadic, eight familial ALS patients and an asymptomatic subject carrying an SOD1 mutation as compared to 28 healthy controls. Two other healthy subjects, heterozygous for the D90A mutation from a recessive pedigree, have normal calcineurin activity. Immunoreactive CaN protein, age, sex and riluzole treatment are not related to calcineurin activity in samples from patients. However, we have observed a marked increase in total protein oxidation in extracts from ALS lymphocytes, as compared to extracts from control subjects. These data confirm that modification of calcineurin activity and possibly of calcineurin-mediated pathways of signal transduction (including modulation of apoptotic neuronal death) may contribute to the pathogenesis of ALS., (Copyright 2004 International Society for Neurochemistry)

Background: Idiopathic hypertrophic cranial pachymeningitis (IHCP) is a rare, poorly understood, inflammatory disease, usually involving the dura mater of skull base, tentorium, and falx, and presenting with headache, progressive cranial nerve palsies, and cerebellar dysfunction., Patients and Methods: In four patients, the diagnosis of IHCP has been made on the basis of extensive clinical, and radiological investigation, and confirmed by dural biopsy in three patients. The clinical follow-up ranges from 24 to 120 months., Results: At diagnosis, all the patients complained of severe, progressively increasing headache, two had simple or complex partial seizures, but none had cranial nerve palsies. Two patients had electrophysiological evidence of axonal peripheral neuropathy, biopsy-proved in one of them. In all the patients, MRI showed linear or focal thickening of the dura mater of the tentorium and/or of the convexity, sparing the skull base. In one patient, MRI findings resembled chronic subdural hematoma. Dural biopsy demonstrated fibrosis and prominent CD4+ T-cells inflammatory infiltrate. Pachymeningitis was highly responsive to steroid therapy, as was the peripheral neuropathy. In three patients, temporary steroids withdrawal led to dramatic clinical worsening including status epilepticus in one., Conclusions: In the patients here reported, absence of cranial nerve impairment, seizures, MRI findings resembling chronic subdural hematoma, and association with polineuropathy were unusual findings of IHCP. Moreover, the type of inflammatory infiltrate, lacking in previous reported cases, suggests a probable pathogenetic role for cell-mediated immunity of unknown origin.

Background: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations., Objective: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family., Design: Case report., Setting: Tertiary care hospital., Patients: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension., Methods: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry., Results: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons., Conclusion: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.