Early onset chromosome 14-linked distal myopathy (Laing).

A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this myopathy, and on the electromyogram and magnetic resonance imaging findings in affected individuals. The pattern of muscle involvement was similar to that in the 'tibial' forms of distal myopathy such as the Finnish (Udd) and Markesbery-Griggs types, with additional involvement of the finger extensors and of some more proximal limb and neck muscles. However, the age of onset was earlier than in these other myopathies and rimmed vacuoles were not found in biopsies from two affected individuals. Evidence of possible anticipation was found in one branch of the family. The gene locus for this myopathy had been mapped to 14q11.2-q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.

Patterns of muscle involvement in inclusion body myositis: clinical and magnetic resonance imaging study.

The differential patterns of muscle involvement in the upper and lower limbs in sporadic inclusion body myositis (sIBM) were examined in 18 patients using both quantitative and manual muscle testing as well as magnetic resonance imaging (MRI) in 9 patients. Weakness of the quadriceps femoris and the forearm flexors was present in most patients, but there was considerable variability in the patterns and severity of muscle involvement. MRI disclosed preferential patterns of muscle involvement within functional groups such as the quadriceps femoris, in which there was severe involvement of the vasti with relative sparing of the rectus femoris, and the triceps surae, in which selective involvement of the medial gastrocnemius was common. Involvement of flexor digitorum profundus on MRI was found in only one third of patients. The results emphasize the variability in the clinical phenotype and differential susceptibility of muscles to the disease process in sIBM.

Acute pulmonary embolism: diagnosis with MR angiography.

PURPOSE: To prospectively evaluate pulmonary magnetic (MR) angiography as a diagnostic examination for acute pulmonary embolism (PE). MATERIALS AND METHODS: Thirty-six consecutive patients (19 women, 17 men; age range, 28-84 years) underwent pulmonary digital subtraction angiography (DSA) and pulmonary MR angiography. MR angiograms were obtained during suspended respiration and the pulmonary arterial phase of gadolinium-based contrast medium injection. A steady-state gradient-recalled-echo sequence with free induction decay sampling was used. DSA studies were interpreted for the presence of acute PE by two independent radiologists; an adjudicator made the final decision on discordant interpretations. RESULTS: By using DSA, a total of 19 acute pulmonary emboli were depicted in 13 patients. Prospectively, 13 of these emboli were depicted by using MR angiography. MR angiography missed six emboli: Four required the DSA adjudicator to make the decision, and one was in a patient whose MR angiogram was acquired during breathing. Four of these six emboli were small subsegmental emboli, and two were segmental. CONCLUSION: Performed without pulmonary arterial catheterization, iodinated contrast media, or ionizing radiation, pulmonary MR angiography had a high accuracy for depicting lobar and segmental emboli, but was unable to depict four of five subsegmental emboli.

Thirteen years longitudinal study of computed tomography, visual electrophysiology and neuropsychological changes in Huntington's chorea patients and 50% at-risk asymptomatic subjects.

The aim of the study was to determine whether CT, visual electrophysiology and neuropsychological changes could assist with the detection of pre-clinical Huntington's chorea (HC). It was also hoped that the examination protocol would be of use in patients with early symptoms or signs of disease but with no family history of HC. Twenty-three patients with HC and 45 subjects at 50% risk, were studied serially. Each visit normally entailed a CT study without intravenous contrast, visual evoked response and eye movements studies, as well as a comprehensive psychiatric, neurological and neuropsychological assessment. Over the 13 years of the study 5 persons, initially symptom free on clinical grounds, developed HC. Of these, 3 had had early atrophy of the caudate nucleus on the first visit and 4 had shown abnormalities in the visual electrophysiology before becoming symptomatic. It is concluded that CT, visual electrophysiology and neuropsychological assessment may assist in the pre-clinical diagnosis of the at-risk HC subject and in the management of the early clinical case.

Ataxic cerebral palsy--clinico-radiologic correlations.

Clinico-radiologic correlations, using CT, were studied in 29 patients with ataxic cerebral palsy. The scans were normal or only slightly abnormal in 38%, posterior fossa abnormalities occurred in 28%, and 55% had obvious cerebral abnormalities which always involved the parietal lobes. There were only two cases where the changes were confined to the posterior fossa. Hydrocephalus was present in four, and there was one case of a Dandy-Walker malformation. An absolute association with any clinical subtype was unusual. All cases of simple ataxia had an obviously abnormal scan, but the changes were widespread. Where dysequilibrium was present the scans were either normal or showed widespread change. Only 25% involved the vermis. Although there was some association between hydrocephalus and ataxic diplegia, the majority of this subtype had a normal or only slightly abnormal scan. Most were hypotonic docile infants with delayed speech and motor skills, particularly those with posterior fossa abnormality. Although CT did not predict development well, those with lower IQ's were more likely to have obvious CT change. Where obvious supratentorial change was present, 75% had a history of epilepsy. In ataxic cerebral palsy CT findings are common, but variable. CT change correlates better with IQ and epilepsy than clinical subtype.

Is CT scan a valid indicator of brain atrophy in alcoholism?

The effect of ingesting varying quantities of alcohol upon the structure and function of the brain was studied using CT scan and psychometric testing. Nutritional status was also assessed. Alcoholics, heavy, moderate and light social drinkers were examined and their results compared with a normal control series. It was concluded that a daily consumption of more than 40 grams alcohol per day, "the safe level" results in brain damage. The latter may partially reverse with abstinence and having reversed maintain improvement, even though patients then resume drinking at the "safe level". The role of thiamin in brain function is still unclear.

Primary cerebral neuroblastomas. A clinicopathological study of one adolescent and five adult patients.

Neuronal differentiation was demonstrated by light microscopy, immunohistochemistry and electron microscopy in the cerebral neoplasms of one adolescent and five adult patients. The tumours exhibited a wide spectrum of cellular differentiation from low to high grade malignancy which seems to correlate well with their biological behaviour. The natural history of these 6 cerebral neuroblastomas is rather long compared to that of other malignant primary cerebral neoplasms of adulthood; however, 2 patients died, one survived about 5 yr after initial symptoms whilst an untreated patient survived more than 12 yr. It is suggested that morphological grading along the lines of Kernohan's system may be useful in determining the prognosis and postoperative management of patients with cerebral neuroblastomas.

CT demonstration of the early effects of alcohol on the brain.

CT evidence of brain damage has been sought in subjects consuming alcohol between 10 g/day to over 200 g/day. Dietary contributing factors have been evaluated. The level of atrophy (shrinkage) has been correlated with intellectual performance. To establish a relationship between alcohol intake and brain structure and function, re-examination of subjects over a 6- to 12-month period of abstinence has been undertaken to examine any reversibility features. A record of liver function showed that brain damage always precedes liver damage. Subjects were re-examined a second time, who had initially abstained for six months and then had returned either to their original level of consumption or to one that was somewhat reduced. A regression in initial improvement was considered evidence of reversible brain damage that had originally been related to alcohol. The threshold consumption for CT damage was 40 g/day, but the level of CT atrophy at which cognitive dysfunction appeared has still to be established.

Multifocal progressive neurological disorder caused by neoplastic angioendotheliosis.

The case of a 46-year-old woman who suffered a multifocal neurological illness, which rapidly progressed to dementia, is reported; the clinical signs were suggestive of multiple sclerosis. At necropsy, polyfocal cerebral white-matter lesions, associated with intravascular plugs of neoplastic cells which appeared to arise from the vascular endothelium, were found. The findings were typical of a rare form of malignant disease of the vascular endothelium known as neoplastic angioendotheliosis, which shows a striking predilection for the central nervous system.

Results of computerized tomography, psychometric testing and dietary studies in social drinkers, with emphasis on reversibility after abstinence.

The frequency of abnormal results of cranial computerized tomography (CT), psychometric testing and dietary studies was established in a prospective study of 39 light-to-moderate drinkers (below 120 g/day) of both sexes. Thirty-one subjects showed some degree of cerebral atrophy on CT scan and, of these, 25 also showed abnormalities on psychometric testing. Psychometric deficits were found in three subjects with a normal CT scan. Cerebral atrophy was reversed in 10 of 11 subjects who abstained from alcohol for between three and 12 months. On re-examination after six months, five of the 11 subjects showed improved performance in most psychometric tests. Sixteen subjects were deficient in some dietary factor and all but one of these had abnormal results of CT scan or psychometric testing. The deficiencies found were in kilojoules (six subjects), iron (five subjects), protein (four subjects), calcium (seven subjects), thiamin (six subjects), and ascorbic acid (one subject). Eight subjects had multiple dietary deficiencies; all but one were women. Four had a low red blood cell level of thiamin, but normal serum levels. This was thought to reflect an impairment in the metabolism of this vitamin due to the effect of alcohol. All four subjects with a low red blood cell thiamin level were found to have cerebral atrophy on CT scan and two had psychometric deficits.

Brain density and cerebrospinal fluid space size: CT of normal volunteers.

This study attempted to establish normal values for cerebral white and deep gray matter density and total brain density, and to discover how much dilatation of the cerebrospinal fluid--containing spaces occurs with advancing age up to 40 years. The 53 female and 62 male healthy volunteers, 15-40 years old, had been screened to exclude individuals with neurologic disease, previous head trauma, congenital or acquired heart disease, chronic pulmonary disease and other systemic illness, and those who consumed more than small amounts of alcoholic beverages. The computed tomography scan data for the 115 subjects were scored subjectively for the severity of atrophy. It was found that in both genders there was an increasing frequency with advancing age of sulcal widening of the frontal lobes and cerebellar vermis starting in the teens. A ventriculo-internal cranial ratio was calculated for 93 subjects who had been examined on the EMI CT 1010, the mean value being 0.31 +/- 0.08 for females and 0.33 +/- 0.06 for males. The ratio did not change significantly with age up to 40 years. On the same 93 subjects, mean values and standard deviations were obtained for normal white matter (30.1 +/- 3.5 Hounsfield units (H) for females and 29.8 +/- 3.3 H for males) and for normal deep gray matter (33.0 +/- 3.3 H for females; 33.2 +/- 2.6 H for males) and for total brain density (33.9 +/- 2.7 H for females; 33.6 +/- 2.6 H for males).

Computerized axial tomography in the detection of brain damage. 2. Epilepsy, migraine, and general medical disorders.

The cranial computerized axial tomography (CAT) findings in groups of patients with epilepsy, migraine, hypertension, and other general medical disorders have been reviewed to assess the frequency and patterns of focal and diffuse brain damage. In addition to demonstrating focal lesions in a proportion of patients with seizures and in patients presenting with a stroke, the CAT scan showed a premature degree of cerebral atrophy in an appreciable proportion of patients with long-standing epilepsy, hypertension and diabetes, and in some patients with migraine, valvular and ischaemic, heart disease, chronic obstructive airways disease, and chronic renal failure. The value of CAT as a means of screening for brain damage in groups of individuals at risk is discussed.

Computerized axial tomography in the detection of brain damage: 1. Alcohol, nutritional deficiency and drugs of addiction.

The severity and extent of cerebral atrophy was assessed on cranial computerized axial tomographic (CAT) scans in 240 alcoholics in whom this investigation had been performed for diagnostic purposes, and in a group of 59 male heavy social drinkers who were studied prospectively. Findings were compared with those in a group of 115 normal volunteers who were either total abstainers or light infrequent drinkers. Only 12 (5%) of the 240 alcoholics and 20 (33%) of the 59 social drinkers had a normal CAT scan. The remainder all showed a degree of cerebral and/or cerebellar atrophy in excess of that found in the normal subjects in a comparable age bracket. Atrophy was most frequent and most severe in the frontal lobes and superior vermis of the cerebellum, but, in most cases, there was more widespread cerebral and cerebellar cortical atrophy. The CAT scans of four patients with anorexia nervosa, two of whom showed an excessive degree of cerebral cortical atrophy for the patient's age, and of eight young people addicted to heroin, cannabis, lysergic acid or barbiturates, six of whom showed varying degrees of premature cerebral atrophy, were also studied.