Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease.

The author reports his experience on Refsum's disease and that gained after personally examining in detail 64 patients with Charcot-Marie-Tooth disease over the past ten years. The "cerebellar" inco-ordination in Charcot-Marie-Tooth disease (with or without distal wasting) and in Refsum's disease is analysed. Some variations in the motor and sensory neuropathy of Charcot-Marie-Tooth disease and Refsum's disease are discussed.

A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease?

The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich's ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, imparied position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced. Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich's ataxia, in particular.

Unusual presentation of Charcot Marie-Tooth disease-incoordination with absent of minimal wasting-Report of 2 cases.

Two patients are reported presenting with incoordination mimicking cerebellar disease in the upper and lower limbs, ataxia of gait, absent tendon reflexes and little or no clinically detectable wasting. Motor conduction velocity in the upper limbs was substantially reduced in one patient whereas it was normal and slightly reduced in the other. It is concluded that in Charcot-Marie Tooth disease incoordination may mimic cerebellar disease and when this is so it is due to the association of varying degrees of proprioceptive deafferentation and a dyskinesia similar to that produced by familial (essential) tremor.

Charcot-Marie-Tooth's disease with severe trophic and sensory disorders. Study of a case following along a half a century with anatomical studies.

Plantar ulcers of neurological origin are known to be associated with several disorders, some of which may be familial. We present the case report together with the clinical and post-mortem data of a patient with peroneal muscular atrophy of the Charcot-Marie-Tooth type and plantar ulcers as a prominent feature. At least three other members of her family had Charcot-Marie-Tooth disease.

Femoral neuropathy due to compression by retroperitoneal haemorrhage: a modern evaluation.

We report a case of femoral neuropathy due to retroperitoneal haemorrhage occurring during the administration of heaprin. The site of the hematoma is illustrated in the CT scan. It is emphasised that the modern assessment of peripheral neuropathies in the lower limbs associated with retroperitoneal haemorrhage by means of CT scan will promote our understanding of the natural history of this condition.

Kuru plaques in the brain of two cases with Creutzfeldt-Jakob disease. A common origin for the two diseases?

We present two patients aged 66 and 69, with a rapidly progressive disease (10 and 15 months' duration) in which the presenting symptom was instability of gait. Later dementia was also a prominent feature. One case had myoclonus.

Jaw reflex in Friedreich ataxia.

Twenty-one patients with Friedreich ataxia were examined and found to have a brisk jaw reflex. This previously unreported clinical finding contrasts with the impairment of tendon reflexes in the limbs and should not rule out the diagnosis of Friedreich ataxia.

Charcot-Marie-Tooth disease associated with 'essential tremor' and normal and/or slightly diminished motor conduction velocity. Report of 7 cases.

We present a study of 7 cases of Charcot-Marie-Tooth disease, associated with a dyskinesia clinically identical with essential tremor, in which motor conduction velocity in the upper limbs was normal or slightly diminished. An analysis of age of onset, sex distribution and clinical signs from cases in the literature is compared with the present series. A family with Charcot-Marie-Tooth disease in which affected members have widely different motor conduction velocity values is reported.

Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease.

The authors report of Argyll-Robertson-like pupils in three patients presenting the neural type of Charcot-Marie-Tooth (CMT) disease with peroneal muscular atrophy. Up to now the light-near dissociation had been reported in the hypertrophic variety of CMT disease. Stress is laid upon the fact that the presence of the light-near dissociation in patients with CMT disease does not help in clinically differentiating the neural from the hypertrophic type of this disease.

Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature.

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2.

[Loss of voluntary control and retention of automatic reflex in certain muscles innervated by cranial nerves in 2 cases of amyotrophic lateral sclerosis].

The authors present two clinical observations of amyotrophic lateral sclerosis (A.L.S.

[Pathology of the peripheral nerve. (Teasing, the various degrees of denervation, onion bulbs) (2nd part)].

Anatomical data for the interpretation of teased fibres are described. The different degrees of degeneration in a peripheral neuropathy are enumerated and criteria to identify them are given. The onion bulb formation process is analysed and some morphologically different types are proposed.

[Pathology of peripheral nerves (elementary lesions, their development and different types of neuropathies) (1st part)].

The ultrastructural features of the normal components of the endoneurium are described. The sequence of events of axonal (wallerian) and segmental demyelination are enumerated. The process of ageing in the peripheral nervous system is analysed.

Unusual motor conduction velocity values in Charcot-Marie-Tooth disease associated with essential tremor: report of a kinship.

In the cases of Charcot-Marie-Tooth disease associated with essential tremor so far reported, motor conduction velocity studies strongly suggested that demyelination was a prominent feature of the neuropathy. For the first time two sibs are reported in whom the electrophysiological changes favour axonal degeneration as the main trait of their peripheral neuropathy.