We investigated the clinical and metabolic characteristics of Parkinsonian patients whose illness started before the age of 40. A pilot study of 32 of our own such cases revealed the existence of 3 subgroups: 1. Post-Encephalitic, 2. Onset and course with predominant tremor, 3. Onset and course with akinesia and rigidity. In this early onset group of patients, there was a 46% incidence of familial cases (as opposed to 10-15% in the general Parkinson population). The cases with tremor onset had a high prevalence of essential tremor in their families, while those with an akinetorigid onset had a high familial incidence of other cases of Parkinson’s Disease. Familial grey hair, hypertension, diabetes and thyroidopathies appeared to be in higher than expected frequency.

These trends were confirmed in a larger series of 135 cases of early onset Parkinson obtained through a mail survey. When the same clinical material was analysed for the familial cases only, two new genetic subgroups emerged: 1) a familial metabolic akineto-rigid syndrome (with hypertension, familial diabetes, hypothyroidism and a more severe course) and, 2) a familial essential tremor-related Parkinsonian syndrome (with familial grey hair trait and hyperthyroidism). These new genetic syndromes along with the recently described “Familial juvenile Parkinsonism” require many further prospectives metabolic and clinical investigations for full characterization, but confirm our hypothesis that “idiopathic” Parkinson’s disease is not a single homogeneous entity.

Seventeen patients with Friedreich’s ataxia or spastic ataxia were subjected to an urodynamic evaluation. Fifty-three per cent (53%) of the patients presented with urinary symptoms consisting of urgent micturition and urgency incontinence. Cystometric evaluation showed a lack of inhibition of the detrusor in 7 patients (41%). Abnormal electric hyperactivity of the external sphincter was documented in 6 cases (37.5%) by electromyography. Some hypotheses are presented to explain the etiology of these abnormal findings.

A 6-year-old child with meningitis had a respiratory arrest 20 minutes after a lumbar puncture. Thereafter she required maintenance on a ventilator, had a flaccid quadriplegia, and died 12 days later. Necropsy showed infarction of the central portion of the cord at the level of the decussation of the pyramids. The suggested mechanism of damage is compression of the arterial supply to the cord at the level of the foramen magnum by herniated cerebellar tonsils; concomitant hypotension may have contributed to production of the damage. Four similar cases, who survived with residual deficit, have also been reported. Other separate mechanisms by which the cord can be damaged in meningitis are vasculitis, thrombosis and arachnoiditis.

Auditory brainstem responses (ABRs) and cortical auditory evoked responses (AERs) were studied in a series of 16 Friedreich’s ataxia patients who varied in age, degree of clinical involvement and duration of the disorder. The ABRs were markedly abnormal in all but the youngest patient, and the abnormalities reflected the severity and duration of the disease. The latencies of the AERs were significantly longer in the Friedreich’s ataxia patients compared to normal controls, suggesting cortical as well as peripheral involvement of the auditory system. These data are discussed in terms of the neuropathology of the disorder and the similarities with the other sensory systems in Friedreich’s ataxia patients.

Adrenoleukodystrophy (ALD) is an X-linked degenerative disease characterized by progressive demyelination and adrenal insufficiency. Several phenotypes are described. In post-mortem tissues there is an accumulation of saturated or mono-unsaturated very long chain fattyacids (VLCFA) in the cholesterol ester fraction of adrenal cortex and cerebral white matter. The accumulated fatty acids are unbranched with carbon chain length between 23 and 32 with most containing 25 or 26 carbons. Determination of VLCFA in readily accessible tissues such as skin fibroblasts and plasma allows for reliable detection of patients and carriers.

We report the preliminary study of a dorsal root ganglion obtained at biopsy during a surgical intervention in a patient with Friedreich’s ataxia. There was an apparent decrease in the number of large myelinated fibers without necrosis, but with numerous axonal swellings consisting mainly of dense accumulated neurofilaments. Large amounts of lipofuscin were also found as well as some onion bulb formations suggesting a process of axonal atrophy.

Charles Dodgson, better known as Lewis Carroll, author of the famous Alice stories, developed migraine and associated visual symptoms late in life. There has been considerable speculation that the bizarre phenomena and weird visual imaginery in Alice stories was directly related to the author’s migraine.

This paper reviews several aspects of the character and health of Lewis Carroll including his shy, introspective personality, his stuttering and his attraction to young girls. It is concluded that there is no connection between the visual symptoms of migraine and the phenomena described in the Alice stories which were written over 25 years before the author developed migraine in his mid-fifties.

Threonine supplementation (500 mg/day) was given to 6 patients with genetic spasticity syndromes for a period of 12 months, followed by a 4-month observation period without medication. All 6 patients showed partial improvement of spasticity, intensity of knee jerks and muscle spasms without changes in true pyramidal tract signs. The improvement in motor performance, objectively measured, averaged 29% (19% in upper limbs and 42% in lower limbs). The range of overall improvement was 19–35% (7–30% for upper limbs; 25–67% for lower limbs). No toxic clinical or biochemical side effects were encountered. Thus threonine, a precursor of glycine, produced the same effect on spasticity than that previously observed with glycine. It is concluded that threonine supplementation is feasible and safe and that it deserves a controlled trial in well defined (preferably genetic) cases of spasticity.

In a six-month open pilot study, pure phosphatidylcholine was administered intravenously (2.5g daily for a month) and orally (5g daily for five months) to sixteen patients with Friedreich’s ataxia (FA) and seven patients with other inherited ataxias. Only the oral treatment achieved a mild but significant, 25% improvement, mainly of “central” symptoms in the FA patients at stage 2 of the illness, that is, still able to walk without support and to lead an independent life. However, the drug was ineffective in the more advanced cases. These results are discussed and compared with those obtained with lecithin by other authors.