Chronic intracranial hypotension.

Acute intracranial hypotension can occur following lumbar puncture or a fall, and sometimes spontaneously. Most cases resolve within weeks or months but some require surgical repair of the defect causing leakage of cerebrospinal fluid (CSF). It is conceivable that such leaks could become chronic if the defect is incompletely sealed. We report the case of a 49-year-old male who presented with a 10-month history of headache associated with a leaking thoracic extradural arachnoid cyst. After this was repaired he reported relief not only of his recent headaches but also of chronic alcohol-related headaches. A long-standing anaemia resolved and tinnitus hyperacusis improved. It is suggested that an injury 30 years before may have initiated the leak of CSF resulting in chronic intracranial hypotension.

Machado-Joseph disease in east Arnhem Land, Australia: chromosome 14q32.1 expanded repeat confirmed in four families.

Four kindreds of east Arnhem Land Australian aboriginal people from Groote Eylandt and adjacent communities display symptoms of a similar spinocerebellar degeneration (multiple-system degenerative disease). The familial pattern indicates an autosomal dominant inheritance, though with varying penetrance in different families. This condition is clinically and pathologically consistent with Machado-Joseph disease (MJD), and there is the possibility of Portuguese ancestry. These families exhibit anticipation, particularly in the case of paternal inheritance, with those with earlier age of onset presenting a clinical pattern consistent with MJD type I. There was no expansion of the CAG repeat region of the SCA1 gene in these families. The demonstration of expansion of the CAG repeat on chromosome 14q32.1 in all four families confirms the diagnosis of MJD.

Delayed neurological deterioration following carbon monoxide poisoning: MRI findings.

We present two patients with delayed neurological deterioration following apparent recovery from carbon monoxide poisoning in whom magnetic resonance imaging showed abnormalities. In the first patient, cortical grey matter abnormalities were seen without white matter changes. Visual evoked potentials were, however, abnormal. In the second, diffuse white matter lesions were detected. In neither patient were basal ganglia lesions seen.

Chorioretinitis as a possible very early manifestation of subacute sclerosing panencephalitis.

Ocular changes occur in up to 50% of cases of subacute sclerosing panencephalitis (SSPE) usually at the same time as other neurological signs. Occasionally, visual symptoms precede other manifestations by a few weeks or months. Fundal changes (most commonly a macular chorioretinitis) are the most frequent ocular manifestation of SSPE. Inclusion bodies occur in the retina of patients with chorioretinitis and SSPE and it is believed that the lesions are due to actual viral invasion. We report a case of SSPE in which an atypical chorioretinitis preceded the onset of the typical clinical features of the disease by almost two years. Our case is unusual because of the long interval between the visual symptoms and the onset of other features of SSPE. We wish to emphasise the importance of thinking of SSPE in cases of chorioretinitis which are atypical or occur in young patients. Although treatment of SSPE thus far has been mostly disappointing, earlier diagnosis may offer the hope of better results.

An endemic neurological disorder in tribal Australian aborigines.

Thirteen, and possibly sixteen cases of neurological disorder have been identified in a population of approximately 1100 tribal aborigines living in Groote Eylandt and the adjacent mainland. There were two relatively distinct clinical pictures: one coming on in childhood involved the motor system, the patients often having remarkably lax ligaments; and the other, generally of later onset, comprising cerebellar, upper motor neurone and sometimes supranuclear ophthalmoplegic features. There was some evidence that the two syndromes are varieties of a single condition. No causal factors were identified but there were indications that the disorder might be genetically determined. Attention is drawn to the similarities between this disorder and other ethnic-geographic isolates, particularly the ALS-Parkinsonism-dementia complex of Guam.

A micro-electrode study of peripheral neuropathy in man. Part 1. Responses to single graded stimuli.

Multi-unit micro-electrode recording were obtained from sensory fascicles of the sural and median nerves of 12 control subjects and of 28 patients with peripheral neuropathy. Spontaneous activity and mass responses to mechanical and electrical stimuli were examined. Mechanoreceptor function appeared normal but there was a reduced number of responsive receptors in peripheral neuropathy. The electrical activation threshold of nerve fibres of all conduction velocities was increased in neuropathy and a greater number of fibres needed to be activated for preception to occur. Clinical sensory impairment was associated with a reduction in size of the initial compound action potential of the maximal evoked neurogram and with dispersion of fibre responses. Pathological slowing of fibre conduction velocity was demonstrated in demyelinating neuropathy but in most cases of axomal degeneration the changes in velocity could have been due either to a reduced number of fast conducting fibres, or to conduction block. No changes were observed in C-fibre activity in these patients.

A micro-electrode study of peripheral neuropathy in man. Part 2. Responses to conditioning stimuli.

Surface, needle and micro-electrode recordings were obtained from sensory nerves of patients with various types of peripheral neuropathy. Changes in amplitude and conduction velocity of nerve action potentials were measured after a single conditioning stimulus and after tetanic stimulation for 2 min. In patients with hereditary forms of axonal degeneration (AD), recovery processes of nerve fibres of all conduction velocities were normal; in acquired forms of AD fibres with conduction velocity less than 30 m/sec had greater and more prolonged post-tetanic depression than control nerves of similar conduction velocity. Where neuropathy was associated with segmental demyelination (SD), fibres of all conduction velocities had prolonged recovery processes after both single and tetanic stimulation. The changes were especially marked at higher skin temperature, and were greater than the changes seen in nerves with acquired forms of AD. Finally, 2 sural nerves were studied during the process of Wallerian degeneration after a biopsy had been obtained proximally, and recovery processes did not change during the period of degeneration. Perceptual abnormalities were similar in AD and SD. It is suggested that changes in recovery processes of nerve fibres with segmental demyelination or regeneration after injury contribute to the perceptual abnormalities which occur in clinically encountered peripheral neuropathies.

Neurophysiological aspects of peripheral neuropathies.

1. Eighty-eight intrafascicular neural recordings were obtained in 10 normal subjects, 5 patients with axonal degeneration and 11 patients with demyelinating neuropathy. 2. Stimulus levels required for perception and fibre activation were higher in neuropathic subjects. Fibres transmitting touch perception had significantly lower conduction velocities in both patient groups, but were very much lower in the group with demyelinating neuropahty than the group with axonal degeneration. Maximum electrical stimulation evoked dispersed fibre responses in the axonal degeneration group and more dispersed, slowly conducting fibre potentials in the demyelinating group. In patients with hypertrophic Charcot-Marie-Tooth disorder, usually only a small group of slowly conducting low amplitude potentials was recorded. 3. Delivery of a train of supramaximal stimuli caused prolongation of latency and dispersion of fibre potentials in all microneurographic recordings. The changes were significantly greater in the axonal neuropathy group than in normals, and recovery was slower. The demyelinating neuropathies showed significantly greater changes than both the normal and the axonal neuropathy groups, and post-tetanic conduction slowing became even more marked after limb temperature was raised. 4. Surface SAP recordings showed normal refractory period in chronic axonal neuropathy but significant latency prolongation occurred in demyelinating neuropathy. 5. It is concluded that both receptor and nerve fibre abnormalities contribute to sensory dysfunction in degenerative and demyelinating neuropathies.

Cutaneous afferent activity in median and radial nerve fascicles: a microelectrode study.

Cutaneous afferent activity was recorded in fascicles of the median and radial nerves of normal subjects using percutaneous microelectrodes. Multi-unit fascicular responses were dominated by activity in large myelinated fibres. Easily tolerated electrical stimuli evoked the full spectrum of fast and slow myelinated fibre activity but more intense levels were required to activate unmyelinated fibres. Correlation of the evoked potentials and the sensations reported by the subject suggested that fast myelinated fibres mediate tactile sensations. Pricking pain appeared with the activation of slow myelinated fibres. The only sensations induced by electrical stimuli were tactile or painful.

Fibre function and perception during cutaneous nerve block.

In awake human subjects, neural responses in radial nerves to electrical stimulation were recorded with intrafascicular tungsten microelectrodes. Changes in the activity of individual fibre groups during blocking procedures were recorded and correlated with simultaneous alterations in the perception of standardized stimuli. Light touch sensibility in hairy skin appeared to depend on the integrity of A-beta-gamma fibres, cold and pinprick on A-delta fibres, and warmth and dull pain on C fibres.

Fibre function and perception during cutaneous nerve block.

In awake human subjects, neural responses in cutaneous nerves to electrical stimulation were recorded with intrafascicular tungsten micro-electrodes. Changes in the activity of individual fibre groups during blocking procedures were recorded and correlated with simultaneous alterations in the perception of standardized stimuli. Light touch sensibility in hairy skin was mediated by A-beta-gamma fibres, cold and pinprick by A-delta fibres and warmth and dull pain by C fibres.

Contractile properties of the abductor digiti minimi muscle in paramyotonia congenita.

In two subjects with paramyotonia congenita the isometric torque generated by the abductor digiti minimi and the surface EMG recorded over ADM decreased during prolonged or repetitive contractions, whether these were voluntarily or electrically induced. Isometric twitch times did not alter significantly during this muscle fatigue. Cooling greatly accelerated the fatiguing process. It is suggested that this local muscle weakness is due to a progressive decrease in excitability of the muscle cell membrane.

An analysis of myotonia in paramyotonia congenita.

In two subjects with paramyotonia congenita myotonic delay in muscle relaxation, recorded electromyographically and with a displacement transducer, was found to increase with repeated forceful contractions. Myotonia was elicited readily in warm temperatures, was initially aggravated by cooling, but was invariably lost as muscle fatigue developed. The EMG evidence of myotonia usually subsided before complete muscle relaxation had occurred, suggesting that a defect of the contractile mechanism was present over and above any defect at membrane level.

Isometric contraction of the abductor digiti minimi muscle in man.

Isometric contraction of the abductor digiti minimi muscle (ADM) has been studied in six normal subjects. Twitch contraction times of ADM ranged from 60 to 68 ms and twitch torque ranged from 2·33 to 6·24 × 10(-3) Nm. In three subjects torque declined by an average of 31% after tetanization at 50 Hz for 30 seconds but there was no similar diminution in the evoked muscle action potential suggesting that the fatigue arose from intrinsic muscular mechanisms. A marked decline in tetanic torque occurred with continued tetanization in two subjects for a total of five minutes, but this change was accompanied by a decrease in the muscle action potential. In six subjects threshold stimulation to the ulnar nerve at the wrist and to various sites over the motor point of ADM allowed 55 threshold twitch contractions to be identified after averaging. A unimodal range of contraction times ranging from 40-100 ms was found and this was confirmed by additional experiments in two subjects in whom 30 threshold twitch contractions were identified using a needle electrode to stimulate various sites in the motor point. Tetanization at 50 Hz was performed using threshold stimulus levels. Nine threshold tetanic contractions were evoked in two subjects. In eight tetanic torque progressively fatigued to between 14 and 20% within 60-90 seconds, but, in one tetanic contraction, torque proved relatively fatigue resistant. These results suggest that there is a homogeneous group of motor units in ADM (with respect to contraction time) and that this group contains what are probable fast twitch fatigue sensitive and fatigue resistant motor units. No evidence of a distinct group of slow twitch units was found.

Sensory conduction of the sural nerve in polyneuropathy.

Using surface electrodes, sensory nerve action potentials (SAP) have been recorded in the proximal segment (mid-calf to lateral malleolus) and the distal segment (lateral malleolus to toe 5) of the sural nerve and in the median nerve in 79 control subjects. The values obtained for the distal segment of the sural nerve varied widely and in seven apparently normal subjects no SAP could be distinguished. In the proximal segment conduction velocities were over 40 m/s and there was no significant change with age, unlike the median nerve in which a highly significant slowing occurred with age. Comparison of the results of sural and median sensory conduction studies in 300 consecutive patients screened for sensory polyneuropathy confirms the value of sural nerve sensory studies as a routine screening test, and confirms the belief that the changes in polyneuropathy are usually more prominent in lower limb nerves. It is therefore suggested that studies of sural sensory conduction form the single most useful test in the diagnosis of sensory polyneuropathy.