CAG repeat number governs the development rate of pathology in Huntington's disease

We compared the number of CAG repeats, the age at death, and the severity of neuropathology in 89 Huntington's disease brains. We found a linear correlation between the CAG repeat number and the quotient of the degree of atrophy in the striatum (the brain region most severely affected in Huntington's disease) divided by age at death, with an intercept at 35.5 repeats. The largest CAG repeat length, therefore, at which no pathology is expected to develop is 35.5. These results imply that striatal damage in Huntington's disease is almost entirely a lineaar function of the length of the polyglutamine stretch beyond 35.5 glutamines multiplied by the age of the patient. Thus, it is predicted that the pathological process develops linearly from birth. Analysis of other measures of striatal function could test this hypothesis and might determine when treatment for CAG repeat diseases should start.     

Outcome of laparoscopic Nissen fundoplication in patients with disordered preoperative peristalsis.

BACKGROUND: A 360 degrees or Nissen fundoplication remains controversial in patients with disordered peristalsis, some surgeons preferring a partial wrap to minimise postoperative dysphagia. AIM: To evaluate symptoms and manometric outcome in patients with disordered peristalsis after Nissen fundoplication. PATIENTS: In an initial series of 345 patients studied prospectively, 31 patients who had undergone a Nissen fundoplication had disordered peristalsis. Using preoperative manometry, patients were classified as: equivocal primary peristalsis (eight patients); abnormal primary peristalsis (four patients); abnormal maximal contraction pressure (13 patients); abnormal primary peristalsis and maximal contraction pressure (six patients). METHODS: Postoperatively, patients underwent a barium meal, oesophageal manometry and standardised clinical review by a blinded scientific officer. RESULTS: Twenty eight (90%) patients had satisfaction scores of at least 8 out of a maximum of 10 and all would undergo surgery again. Whereas 15 (48%) patients had dysphagia scores greater than 4/10 preoperatively, only two (6%) had these scores at one year. Improved peristalsis was seen in 78% of postoperative manometric studies, and mean preoperative lower oesophageal sphincter pressure increased from 6.6 (range 0-21) mm Hg to 19 (4-50) mm Hg. CONCLUSIONS: These results are similar to the overall group of 345 patients and suggest that disordered peristalsis, and possibly even absent peristalsis, is not a contraindication to Nissen fundoplication as performed in these patients.     

Varicella in a gorilla

Naturally occurring varicella was observed in a young gorilla in captivity. The isolate was demonstrated to be varicella-zoster virus by restriction enzyme analysis.     

Cyclophosphamide 'pulses' in chronic progressive multiple sclerosis. A preliminary clinical trial

To our knowledge, this is the first clinical trial in multiple sclerosis (MS) demonstrating the feasibility of directing immunomodulating therapy by monitoring immunologic results. Cyclophosphamide was administered at monthly intervals, escalating the dose until there was a significant reduction in both the number of blood B lymphocytes and helper/inducer (CD4) T cells of 14 patients with chronic progressive MS. The frequency and severity of adverse effects led us to conclude that the regimen is too toxic for the long-term treatment of patients with MS.     

Cerebral ischemic accidents and tuberculous meningitis]

Two cases of tuberculous meningoencephalitis mimicking regressive or transient ischaemic attacks or migraine with aura are reported. The value of MRI with gadolinium in demonstrating inflammation of the leptomeninges, of transcranial Doppler sonography in detecting segmentary accelerations in the basal cerebral arteries suggestive of arteritis and of CSF examination with polymerase chain reaction (PCR) are emphasized.