Interrelationships between the B-vitamins in B12-deficiency neuromyelopathy. A possible malabsorption-malnutrition syndrome.

Five patients presenting clinically with a form B12-deficiency neuromyelopathy, with cord involvement in all and proximal muscle weakness in two of them, were investigated for their neurologic, hematologic and vitamin status. Megaloblastosis and achlorhydria were present in all, and impaired absorption of 57Co vitamin B12 and of D-xylose was detected in four. Total cyanide extracted vitamin B12 (A) was lowered in all cases and noncyanide extractable (B) in four of the five, being zero in three. All five responded to injections of hydroxocobalamin. In two patients sequential estimations showed that both A and B, especially the latter, rose steeply initially, normalizing at 50% of A after some weeks. Moiety B is suggested to be physiologically the more active and dissociable form of vitamin B12. Markedly elevated initial serum folate levels, and their subsequent fall under treatment with B12, indicated the operation of the "methyltetrahydrofolate trap". Blood levels of thiamin, nicotinic acid and pantothenic acid were within normal limits. However, serum riboflavin (B2) total vitamin B6 and pyridoxal were reduced in all where tested. Vitamin B6 deficiency could have resulted from its own malabsorption and have contributed to be B12 deficiency. Vitamin B2 and B6 levels also corrected themselves on B12 therapy. The B-vitamin deficiencies in our patients probably resulted from intestinal malabsorption, with a possible factor of malnutrition consequent to their strictly vegetarian diet.

Machado-Joseph-Azorean disease in India.

Machado-Joseph-Azorean (MJA) disease is an autosomal-dominant multisystem motor degeneration (with cerebellar ataxia as an important manifestation) that is seen mainly in people of Portuguese descent. Recently, a family in Japan with probable MJA disease has been described. We describe a family with clinical features similar to those of MJA disease; these are the first cases to be described in India. Further pathologic study is necessary to confirm the diagnosis in our cases. Meanwhile, further search for such cases in India should yield interesting genetic clues to the disease.

Prevalence of Parkinson's disease in the Parsi community of Bombay, India.

A door-to-door survey was carried out to screen a community of 14010 people (Parsis living in colonies in Bombay, India) for possible neurologic diseases. High school graduates, social workers, and medical students administered a screening questionnaire that had been shown in a pilot survey to have a sensitivity of 100% for identifying those with Parkinson's disease. Neurologists used defined diagnostic criteria to evaluate individuals positive on the screening survey. There were 46 people (25 men, 21 women) who suffered from Parkinson's disease (328.3 cases per 1000 population). The age-specific prevalence ratios increased consistently with age. Age-adjusted prevalence ratios were slightly higher for men.

Prevalence of essential tremor in the Parsi community of Bombay, India.

A door-to-door survey for neurologic diseases was conducted in a community of 14,010 people (Parsis living in colonies in Bombay, India). Neurologists used defined diagnostic criteria to evaluate persons with positive results on the screening survey. Two hundred thirty-three people (104 men; 129 women) were identified as having essential tremor. The overall prevalence ratio was 1663.1 [corrected] per 100,000 population. Age-specific prevalence ratios increased with age. Age-adjusted prevalence ratios were similar for men and women. To the best of our knowledge, this is the first community-based survey for essential tremor in Asia.

Prevalence of peripheral neuropathy in the Parsi community of Bombay.

We carried out a door-to-door survey to screen for neurologic diseases, including peripheral neuropathy, in a community of 14,010 Parsis living in housing colonies in Bombay, India. The most common neurologic disorder was peripheral neuropathy with 334 cases (2,384 cases/100,000 population). The most common neuropathy was compressive, with diabetes the most common noncompressive etiology. There was no leprosy, and nutritional neuropathies were rare.

Case-control study of completed ischemic stroke in the Parsis of Bombay: a population-based study.

All eligible adult cases of completed ischemic stroke (N = 112) derived from a prevalence survey of the Parsi community in Bombay, India, served as the basis of a case-control study of risk factors. The stroke morbidity rate in this group was similar to that reported for North America. A control subject free of stroke was selected randomly from the same population and matched to each case by age and sex. Information was obtained on various risk factors. Hypertension, both by history (odds ratio = 10.8) and by examination (odds ratio = 2.1), had a statistically significant association with stroke (p less than 0.01). This is one of the first community-based case-control studies of stroke in a large developing country.

Prevalence of multiple sclerosis in the Parsis of Bombay.

We carried out a door-to-door-survey to screen a community of 14,010 people (Parsis living in colonies in Bombay, India) for possible neurologic diseases, and used defined diagnostic criteria to evaluate people who tested positive on the screening survey. There were three clinically definite cases of multiple sclerosis (21/100,000). This is the first prevalence survey for multiple sclerosis in a large developing country.

Pilot survey of the prevalence of neurologic disorders in the Parsi community of Bombay.

There is a paucity of trained neurologists in developing countries. We designed a questionnaire to rapidly screen a community of 851 people (Parsis living in a colony in Bombay, India) for possible neurologic diseases. This questionnaire was pretested and found to have a sensitivity of 100 percent for detecting epilepsy, febrile seizures (only in children), completed stroke, peripheral neuropathy, movement disorders, cerebral palsy, mental retardation, and severe dementia. The screening questionnaire was administered by trained lay health workers. One hundred and sixty-three people were identified by this questionnaire as possibly having neurologic disease. Neurologists later examined these 163 people and found that 80 of them actually suffered from at least one of the neurologic diseases of interest (positive predictive value = 48 percent). The most common neurologic disorders were peripheral neuropathy (32 cases), essential tremor (13 cases), stroke (12 cases), Parkinson's disease (six cases), and epilepsy (four cases).

Choreo-acanthocytosis.

This is the first report from India of a family of 4 sisters and 3 brothers in whom the proband showed a complete form of the choreo-acanthocytosis syndrome, whereas the 2 brothers who had died earlier of this disease had no examination of their blood. The apparently healthy members of this family also showed acanthocytosis, suggesting that this is a multisystem disorder affecting cell membranes.

The neuropathy of Dejerine and Sottas: report of an Indian family.

We report here a family in which 4 out of 11 sibs of unrelated parents showed the typical clinical features of Dejerine-Sottas disease. Sensory disturbance was present in only one case and age at onset was delayed to 4 years in another. The others all conformed to the infantile form of the disease. This is the first time in which mental retardation has been reported in this disorder.

Neuronal ceroid lipofuscinosis: clinical and histochemical observations in 2 cases.

Two cases of neuronal ceroid lipofuscinosis are presented with detailed accounts of the clinical, histopathological and histochemical changes in the brain. In one of them, neurochemical analysis of the brain was found to be essentially normal. Despite the pathological and histochemical similarity in these two cases, the clinical forms were quite distinct. The clinical patterns are attributed to differences in the topography of neuronal involvement. The pathogenesis of this extremely rare form of neurolipidosis is discussed with reference to recent literature.

Neuropathy in tetanus.

Thirty-four cases of severe tetanus were studied. On clinical examination weakness and sensory loss compatible with peripheral neuropathy was found in 27. The pattern was usually asymmetrical, the commonest nerves affected being ulnar, median and lateral popliteal, although occasionally circumflex, musculocutaneous, femoral and facial nerves were also involved. Electrophysiological studies showed spontaneous activity resembling denervation potentials, diphasic and positive sharp waves. In some muscles there was also activity resembling spontaneous firing of motor units. Motor and sensory conduction velocities in the affected nerves were moderately reduced and the amplitude of sensory potentials was also reduced. No conduction was found in 11 nerves in 8 patients on initial studies, but 4 out of 7 nerves that could be studied showed rapid recovery. Although most of the nerves in the rest of the patients showed clinical recovery, conduction velocities showed improvement most often when examined about 10 weeks after the onset of trismus. The clinical and electrophysiological evidence suggests the involvement of peripheral nerves in severe tetanus. Serum neuritis, hypersensitivity reaction to tetanus toxoid or drug-induced neuropathy have been ruled out.