PubMed Health⌕ Search

Biomedical subjects

H S Pall

Publications and source records attributed to H S Pall.

At least 19 recordsLinked to original sources
PubMed2006

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).

Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor neurons. Antibodies to p62 (sequestosome 1) showed novel oligodendroglial inclusions in the motor cortex.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Wilson's disease presenting in a family with an apparent dominant history of tremor.

A patient with Wilson's disease is described who presented with dystonic tremor in a family with an apparent dominant history of tremor. Subsequent investigation showed that the patient's mother had essential tremor, with molecular analysis of the ATP7B gene excluding the possibility of pseudodominant inheritance. This case highlights the importance of considering the possibility of Wilson's disease in every young patient with a movement disorder, even where the clinical picture does not suggest a recessively inherited disorder.

Adolescent↗
PubMed1997

Postprandial changes in superoxide dismutase activity in subjects with Gilles de la Tourette syndrome and controls.

Erythrocyte measures of copper-zinc superoxide dismutase (CuZnSOD) were performed on 11 subjects with a clinical diagnosis of Gilles de la Tourette syndrome (GTS) and 6 healthy controls at specified intervals throughout the day. There were no significant differences between GTS subjects and controls but in both subjects and controls there was a significant increase in SOD, 75 min postprandially, which decreased to baseline 135 min postprandially. This has implications for the timing of biological samples in future studies of SOD. Possible reasons for the increase are discussed.

Adolescent↗
PubMed1988

Xenobiotic metabolism in motor neuron disease.

Debrisoquine, carbocysteine, and paracetamol were selected as safe drugs to investigate the ability of the liver's microsomal system to oxidise carbon, oxidise sulphur, and conjugate sulphate in patients with motor neuron disease (MND), other hospital patients, and healthy volunteers. Subjects with poor sulphur-oxidising and sulphur-conjugating activities were heavily over-represented in the MND group.

Acetaminophen↗
PubMed1988

Synthesis and nuclear magnetic resonance spectroscopic, mass spectroscopic, and plasma amine oxidase inhibitory properties of analogues of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine.

Seventeen analogues of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine were synthesized using three reaction pathways: condensation of phenols with 1-methyl-4-piperidone, reaction of Grignard reagents with 1-methyl-4-piperidone followed by dehydration of the product, and aminomethylation of olefins. The identity of the products of synthesis was established by nuclear magnetic resonance spectroscopy, mass spectroscopy, and elemental analysis. Thirteen analogues were shown to inhibit the oxidation of benzylamine by bovine plasma amine oxidase. Increasing the length of the aliphatic chain of N-substituted analogues resulted in increased inhibition. In 4-phenyl-substituted analogues, both the position and electronic character of the substituent group affected the degree of inhibition.

1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine↗
PubMed1988

Progressive multiple cranial neuropathies presenting as a delayed complication of radiotherapy in infancy.

A 38 year old woman who had undergone irradiation during infancy for a left facial cutaneous arteriovenous malformation sequentially developed complete palsies of the ipsilateral VII, V, XI, IX, X, XII and VI cranial nerves. Apart from optic and olfactory nerve damage there are few reports of radiotherapy causing cranial nerve injury. We link the unusually extensive and progressive neural damage and the prolonged latency to the patient's age at time of irradiation.

Adult↗
PubMed1987

Evidence of enhanced lipid peroxidation in the cerebrospinal fluid of patients taking phenothiazines.

Products of lipid peroxidation in the cerebrospinal fluid are found in higher concentrations in patients receiving phenothiazines than in control subjects matched for age and sex. Especially high concentrations are found in patients experiencing ill-effects from phenothiazine therapy. Raised concentrations of cerebrospinal fluid "phenanthroline copper" in these patients suggest that metal-catalysed mechanisms may promote the lipid peroxidation. It is suggested that lipid-soluble antioxidants, such as vitamin E, may be useful for the prevention and treatment of phenothiazine side-effects.

Adult↗
PubMed1987

Raised cerebrospinal-fluid copper concentration in Parkinson's disease.

The cerebrospinal-fluid copper concentration, measured by electrothermal atomisation/atomic absorption spectrophotometry, was significantly higher in 24 patients with untreated, idiopathic Parkinson's disease than in a control population of 34 patients (p less than 0.001). The difference in the in-vitro capacity of copper to damage DNA, measured by the phenanthroline assay was even greater. The high phenanthroline-copper concentration correlated with disease severity (p = 0.02) and with the rate of progression of disease (p less than 0.05). A possible role is suggested for copper-catalysed oxidative mechanisms in the pathogenesis of Parkinson's disease.

Adult↗
PubMed1987

Subacute polyradiculopathy with optic and auditory nerve involvement.

Two patients are described, who, after an otherwise trivial viral upset, presented with an acute syndrome consisting of polyradiculopathy affecting all four limbs, with additional severe optic and auditory nerve involvement and other central nervous system signs. A combination of some of the features of the Guillain-Barré syndrome and a simultaneous acute episode of demyelination in the central nervous system were seen in these patients.

Adult↗