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Inverted knee jerk: a neglected localising sign in spinal cord disease.

Two cases are described in which inversion of the quadriceps jerk was observed. It is suggested that the finding of an inverted quadriceps jerk is evidence of a spinal cord lesion at 12, 3, 4 segmental level and has for the lumbar cord the same localising value as the inverted supinator jerk for the cervical cord.

Adult↗

A longitudinal study of disease activity and functional status in a hospital cohort of patients with ankylosing spondylitis.

OBJECTIVE: To evaluate changes in functional status and disease activity and their determinants in patients with ankylosing spondylitis (AS) attending hospital, using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and the Bath Ankylosing Spondylitis Functional Index (BASFI). METHODS: Patients completed BASDAI and BASFI questionnaires annually from 1996 to 2001. Demographic and clinical data were collected. The mean first and last recorded scores were compared. The change per year and area under the curve per year for the BASDAI and BASFI were calculated. Relationships between demographic, clinical and longitudinal BASDAI/BASFI data were examined. Subgroup analyses were performed using the cross-sectional and longitudinal data. RESULTS: Two hundred and seventy-nine BASDAI and 322 BASFI questionnaires were analysed. The BASFI increased [mean change 6.15, 95% confidence interval (CI) 1.9, 10.3, P = 0.005] but the BASDAI did not (mean change 0.87, 95% CI -3.96, 5.7, P = 0.71). First recorded scores were the best predictors of the cumulative scores per year. Patients with peripheral joint (P = 0.01) and hip (P<0.001) disease had higher mean BASFI scores. Males (P<0.001) and patients with spinal disease alone (P = 0.0014), iritis (P = 0.005) and late-onset AS (P = 0.002) became more functionally impaired over time. CONCLUSIONS: Disease activity in this AS cohort remained relatively constant but there was functional decline. Initial BASDAI/FI can predict a severe disease course. PJD patients with peripheral joint disease were more functionally impaired, but deteriorated less than spinal disease alone patients. Iritis and late onset disease may be severity markers for functional impairment.

Adult↗

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine belonged to unrelated autosomal dominant pedigrees. None of the 18 patients showed deletions involving SMN exons 7 or 8, the most frequent gene alteration found in SMA. In addition, haplotype analysis in two large autosomal dominant pedigrees showed that the 5q13 locus was not segregating with the spinal CMT locus. Therefore, neither the sporadic nor the familial cases of spinal CMT are associated with a SMN gene deletion, nor are the familial cases linked to the 5q13 region, indicating that this neuropathy is genetically different from SMA.

Charcot-Marie-Tooth Disease↗

[Rigidity abolished by intravenous dantrolene in a patient with Parkinson's disease under spinal anesthesia].

Spinal anesthesia was given to a patient with right femur fracture and Parkinson's disease (PD). Although sufficient analgesia was obtained up to L1 level after spinal anesthesia, the muscular rigidity remained. Furthermore, tremor of the upper extremities continued. After administering dantrolene sodium (DT) intravenously, these untoward features were abolished. These findings suggest that DT abolishes rigidity and tremor in PD, and is useful for the management of anesthesia for a patient with PD.

Aged↗