Fourteen Friedreich patients (F group) who had undergone a first electronystagmogram (E.N.G.) reported in 1978, had the same test 12 to 24 months after the first one. In the second study, there are more patients with bilateral hypoactive caloric nystagmus failure of fixation suppression, ocular dysmetria, irregular pendulum tracking and ocular flutter. These signs are probably most representative of the progression of the disease. Nineteen unaffected relatives of these patients (H group) also had an electronystagmogram but no special “familial” electronystagmographic pattern could be identified. Irregular ocular poursuit, nearly invariable in the F group but absent in the H group, was one of the most important differences between patients and their relatives.

A considerable proportion of patients with Parkinson’s disease report having affected relatives. However, anamnestic data obtained from probands on the occurrence of secondary cases among their relatives are of limited value. In considering the possible role of heredity in Parkinson’s disease it is necessary to carefully distinguish between the disease and other disorders such as essential tremor and olivopontocerebellar atrophy which may manifest parkinsonian features. Controlled family studies have shown only a very slight excess of secondary cases among index siblings as compared to spouse siblings. The concordance rate for Parkinson’s disease among identical twins is extraordinarily low and does not significantly exceed that among fraternal twins or that expected from the prevalence rate among siblings found in the controlled family studies. The available evidence indicates that heredity plays no significant role in the etiology of Parkinson’s disease. Consequently the disease must be considered to be acquired.

A case of subacute progressive spinal tetraparesis had myelographic evidence of cervical spinal cord swelling and a delayed metrizamide computed tomographic myelogram (MCTM) suggested cavitation within the swollen spinal cord. Surgical exploration of the cervical cord revealed inflammatory changes only. No syrinx or intramedullary tumour was found. The accumulation of metrizamide within the spinal cord, as demonstrated by MCTM, did not’respresent a syrinx or a cystic tumour, but more likely an area of inflammation. Because inflammatory myelopathy may simulate an intramedullary tumor or syrinx, careful analysis of all clinical and radiological information is necessary to help make a correct diagnosis.

We report a fifty three year old man who presented with progressive visual loss. Investigation disclosed a giant aneurysm with optic nerve compression, which was successfully treated surgically. The patient had typical skin lesions of tuberous sclerosis, but did not suffer from a seizure disorder or mental retardation. In the past he had had an enucleation for glaucoma secondary to a retinal phakoma.

Cerebral aneurysms are discussed in relation to the tuberous sclerosis disease process. After review of the literature, we propose that the aneurysms are secondary to dysplastic change in the vessel walls, this is in keeping with the abnormal tissue proliferations in this disease.

A 76 year old patient with a long history of headaches was found to have Paget’s disease and communicating hydrocephalus. There were (otherwise) no neurological or musculo-skeletal manifestations of Paget’s disease, but moderate impairment of intellectual function was present. Treatment with disphosphonates did not bring any significant improvement, but three days following a ventriculo-atrial shunting procedure, the patient became headache-free for the first time in several years.

In the literature, patients with hydrocephalus have been shown to respond quite unevenly to atrio-ventricular shunting, but in most instances the descriptions concerned advanced cases with well-established symptoms of dementia, ataxia and incontinence. Our case is reported to stress the importance of early diagnosis and management of hydrocephalus in Paget’s disease for the prevention of widespread neurological dysfunction.

This retrospective study documents the experience of two large Canadian teaching hospitals with occlusive cerebrovascular disease in young adults. Chart review disclosed 76 patients aged 15-40 years during a recent six year period. An apparent cause, or significant coincident risk factors were found in 51 patients (67%). The most prevalent recognized causes were atherosclerosis, emboli from cardiac sources or intracranial aneurysms, and complicated migraine. Pregnancies or use of oral contraceptives were apparent coincident risk factors.

A simple radiographic apparatus standardizing foot position and simulating weight-bearing effects in the feet is described in this paper. It provides an effective means of obtaining reliable radiographic data for both ambulatory and nonambulatory patients. This device is presently used in an on-going study on pes cavus in Friedreich's ataxia.

A sixty-five year old woman developed relapsing polychondritis with three of the diagnostic criteria established by McAdam et al. (1976), namely bilateral auricular chondritis, ocular inflammation and both cochlear and vestibular dysfunction. Many authors have mentioned other neurological symptoms including unilateral facial weakness. This patient is the first case described with bilateral facial weakness and cerebral manifestations.

Relapsing polychondritis, an uncommon, recurrent, inflammatory disorder affecting the cartilaginous tissues of the body (Jaksch-Wartenhorst, 1923; Herman, 1981), is regularly associated with audiovestibular dysfunction (Bollet et al., 1969; Cody et al., 1971; McAdam et al., 1976; Ridgway et al., 1979). McAdam et al. (1976) and Ridgway et al. (1979) have mentioned other neurological symptoms including unilateral facial weakness. We recently observed a patient with polychondritis and multifocal neurological abnormalities. We believe this is the first case described with bilateral facial nerve palsy and with cerebral manifestations.

An Amerindian girl with Friedreich’s ataxia presented at the age of 14 years with intermittent bifrontal headaches and abdominal aching, often associated with nausea and recurrent vomiting and an evanescent pink, blotchy rash on the upper trunk. In these attacks she also had hypertension up to 210/160 mm Hg. Renal function studies, including intravenous pyelogram and angiography, were normal. Plasma renin activity (2.5 ng/ml/hr) was also normal. Total body CT scan was negative for phaeochromocytoma, and repeated estimations of 24-hour excretion of urinary VMA were normal or borderline high. Levels of total catecholamines in 24-hour urine were normal twice, but two random specimens during the paroxysmal episodes contained abnormally high levels of norepinephrine and dopamine. Plasma catecholamine concentrations were increased but not as high as with phaeochromocytoma. Blood pressure monitoring demonstrated marked fluctuations with position and temperature. A clonidine suppression test showed a substantial fall of plasma catecholamine levels, consistent with dysautonomia and not with phaeochromocytoma. It is concluded that the patient has dysautonomia of central origin, probably as a manifestation of Friedreich’s ataxia. These findings are discussed in relation to the recent demonstration of increased levels of plasma catecholamines in that disease.

Epidemiology of parkinsonism for 13 years (1967 to 1979) in Rochester, Minnesota is evaluated. For each patient, two age- and sex-matched controls with comparable medical follow-up (mean 40 years before diagnosis) were selected from the same community. Smoking habits, dementia, acute and chronic illnesses and mortality patterns in the two groups are compared. The annual incidence rate was 20.5/100,000, which is virtually unchanged from previous reports on Rochester population. Cigarette smoking habits of cases and the controls before the index date were not significantly different. Prior to diagnosis of Parkinson’s disease, dementia was diagnosed significantly more frequently among the patients than the controls (P = 0.048). After diagnosis of parkinsonism dementia emerged nearly three times more frequently in patients than among the controls. Mortality rate in the entire parkinsonian population was similar to that reported from the same community between 1935 and 1966. Only 50% of the patients were treated with levodopa. Among those treated with levodopa the mortality rate was comparable to their controls. Because there were no definite criteria for administering levodopa therapy, higher frequency of dementia and prolonged survival in those treated with this drug could be attributed to the bias of case selection for treatment.

A 24 year old woman with a 15 year history of intractable seizures underwent resection of a small low grade astrocytoma of the right mesial frontal lobe. The tumor arose beneath a benign scalp nevus that had been treated in infancy with radium patches and focal x-irradiation. Neuropathological changes within the tumor were compatible with radiation injury. Meningiomas and sarcomas complicate cranial irradiation but the evidence that gliomas do so is less convincing. Our observations support an association between radiation exposure and the subsequent development of glial tumors.

The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pathological findings in the fatal neonatal case revealed numerous rod bodies in lingual, pharyngeal, diaphragm and limb muscles, correlating with clinical findings. Significant, but less rod body involvement was found in the diaphragm and limb muscles of the second patient. Although a neural basis has been suggested for this disorder, no abnormalities were found in the central nervous system or in the peripheral nerves of these two severely affected patients.

Our experience in treating 7 patients with moderate to severe parkinsonism induced by l-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine (MPTP) is reviewed. Virtually all of the problems typically encountered with dopamine precursor and agonist therapy in treating Parkinson’s disease have been observed during a one and one half year follow-up period, including “end-of-dose” deterioration (or “wearing off’), “peak-dose” dyskinesias, “on-off” phenomena, and psychiatric complications. These have occurred much earlier than is typically seen when treating the idiopathic disease. This rapid evolution of therapeutic side-effects favors the view that at least some of the complications of dopamine precursor therapy may be related to severity of disease rather than the length of levodopa therapy. Finally, we suggest that the occurrence of this full array of therapeutic complications in patients with MPTP-induced parkinsonism furthers the analogy between this syndrome and Parkinson’s disease.

A three-dimensional geometric model of the foot's bony structure based on the use of a stereoradiographic technique is presented. To illustrate the potential of such a model it has been applied here to the study of cavus foot in a patient having Friedreich's ataxia. This model permits an accurate evaluation of this complex spatial foot deformity.

Haemophilus influenzae type b (HIb) is the most common cause of bacterial meningitis in children with a mortality rate ranging from 1.6% to 14%. Most patients have a 2-3 day history of symptoms prior to admission. A few have fulminating disease with rapid neurological deterioration. Review of 191 cases of HIb meningitis revealed a mortality rate of 2.1% but all who died had fulminating meningitis (FM). Four of six patients with FM died. FM patients had symptoms for less than 24 hours before rapid neurological deterioration with increased ICP, seizures, coma and/or respiratory arrest. Review of 10 FM cases revealed that on admission, 5 had hypotension, 3 had thrombocytopenia, and 8 had coma. Typical CSF changes were seen in only 7. All fatal cases died within 24 hours. Brain swelling and tonsillar herniation were found at autopsy. SDS-PAGE outer membrane protein subtyping did not show one “killer strain”. Animal and autopsy data suggest that diminished CSF outflow and cerebral edema contribute to increased ICP. To improve survival of FM patients, initial treatment must (1) decrease ICP below levels impairing cerebral perfusion, (2) maintain adequate ventilation and blood pressure, and include (3) LP when stable, (4) antibiotics, and (5) close monitoring. Utilizing these principles, two FM patients survived without major sequelae.

The diagnosis of extracranial metastases from a pituitary tumor was confirmed by the use of the immunoperoxidase technique. This is believed to be the first case of carcinoma of the pituitary gland with bony metastases where the diagnosis has been confirmed in that manner.

Measurements of the volume-pressure response (VPR) to determine the relative position of a patient on the graphic volume-pressure curve have been used to derive clinically useful information. One reason that these measurements have not been used more frequently has been the fear of introducing infection into the ventricular system. We have designed an intraventricular catheter that allows repeated VPR measurements and reduces the risk of infection.