A short summary of the state of our knowledge at the start of Phase Two of the Quebec Cooperative Study of Friedreich's ataxia is presented. The main questions raised hy the discoveries made in the Phase One Survey are listed and the plan of our current investigations is outlined.

A 28 year old woman with multiple sclerosis has been followed for 10 months with serial brain scans on 5 admissions. The correlation between the clinical picture and the brain scans was clearly demonstrated.

Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2½ to 78 years. Age at onset in 14 of the 17 varied between 2½ and 56 years. Pes cavus and palpable nerve thickening were present in more than half of the affected individuals. All patients had areflexia. Fifteen of the 17 had distal motor weakness as well as mild to moderate sensory impairment. Motor weakness affecting the proximal hip and shoulder girdle muscles was seen in 13 patients. Four patients gave a history of trigeminal neuralgia. Motor nerve conduction velocities were markedly impaired in all the clinically affected members. These studies were normal in the 8 unaffected members. Motor conduction velocities of the proximal segment of the ulnar nerve were slower compared to the distal segment in almost all the affected members. There was no significant correlation between the degree of clinical disability and the extent of impairment in the motor nerve conduction velocities. Sural nerve biopsies were studied. These observations are discussed.

Herpes simplex virus in the trigeminal ganglia of humans was studied in Philadelphia, Pennsylvania, United States of A merica, and in Kyoto, Japan. The prevalence of recurrent herpes labialis and of clinically latent herpes simplex virus within trigeminal ganglia was determined in inhabitants of the two cities. In addition, a comparison was made of the prevalence of mononuclear cell infiltration in the trigeminal ganglia of Americans and Japanese. Recurrent herpes labialis was found to be significantly less common in the Japanese city than in the American city. Herpes simplex virus was rescued less commonly from the trigeminal ganglia of cadavers in Japan than in America. The difference was significant. The frequency of mononuclear cell infiltration in the trigeminal ganglia of Americans and Japanese is not significantly different. These observations, as well as previously reported serological studies, suggest that despite the ubiquitous nature of herpes simplex virus in A merica and Japan, the Japanese have less clinically overt desease caused by this virus.

A case of hot water epilepsy is presented and the literature on the subject is reviewed. The data show that hot water epilepsy is a benign form of rejlex epilepsy occurring mainly in children. Males are affected more than females. The triggering stimulus is immersion in hot water (over 37°C). The seizure is usually psychomotor, although generalized convulsions may occur. The EEG findings indicate that the abnormality lies in the temporal lobe.

A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia.

Pseudotumor cerebri is a clinical syndrome in which signs and, sometimes, symptoms of raised intracranial pressure are present hut in which mental and neurological function are unaffected. Therefore, the diagnosis is reached after mass and other structural causes of raised pressure have been excluded.

Many causes of pseudotumour have been suggested, not all of them well documented. Pathogenesis, however, includes cerebral edema, increased cerebral blood volume, and decreased cerebro spinal fluid (CSF) absorption.

Except for the risk of vision in a minority of cases, the prognosis is excellent.

Various examples of foreign body embolization of cerebral arteries, usually followed by serious consequences, have been reported (Lindberg et al, 1961; Chason et al, 1963; Steele et al, 1972; Wetli et al, 1972). However, a shotgun pellet entering the left atrium of the heart through a gunshot wound of the chest with subsequent embolic occlusion of one of the carotid arteries appears to be unique. It is the subject of this short communication.

A thorough investigation of vestibular function has been carried out in 16 patients with typical Friedreich's ataxia. Electronystagmography and caloric tests revealed a number of inconstant abnormalities. Most abnormal findings were related to ocular dysmetria, disorganized pursuit and square waves.

A clinicopathological study in a case of Roberts syndrome (tetraphocomelia, cleft lip and palate, and phallic hypertrophy) is reported. This patient had hydranencephaly and imperforate anus, two additional congenital abnormalities so far not reported in this syndrome.

The phosphorylation of spectrin, hand 3 protein, and the phospholipids of erythrocyte membranes (ghosts) was examined in 10 patients with Duchenne muscular dystrophy (DMD) and in healthy age- and sex-matched controls. The rales of phosphorylation of spectrin and band 3 protein were significantly higher in ghosts prepared from patient blood than from control blood at both 30° C and 37° C. However, the mean increases in the rate of phosphorylation of both spectrin and band 3 protein in response to a temperature change from 30° C to 37° C were identical in gliosis from patient and controls. Phosphorylation of phospholipid and its temperature response did not differ between patients and controls. These results complement previous observations of differences in erythrocytes from patients with DMD. The similarity of the changes in phosphorylation of both spectrin and band 3 protein indicates a common cause, possibly their lipid environment.

The case is reported of a woman with a mucin producing lobular carcinoma of the breast with metastases to many bone sites, whose terminal neurological illness was the result, not of cerebral metastases, but of cerebral infarcts. These were caused by emboli of mucin and emulsified fat, originating in bone metastases.

The pathogenesis of this embolism is compared with that of traumatic fat embolism. Attention is drawn to this process because emboli of this type have never been reported and because this distant nonmetastatic effect of carcinoma may have been overlooked in other cases. It is suggested that this mechanism should be considered in the diagnosis of otherwise obscure cerebral infarction.

Tissue response to platinum electrodes was assessed after an eight-day implantation period. The regions of study included the cortical areas at the opercular gyri and at the sulcus parielo-occipitalis externus, as well as the sub-cortical white matter in these areas.

Perivascular and intraparenchymal hemorrhagic lesions as well as edematous changes characterized both by extensive intra and extracellular swelling were noted. Numerous phagocytic elements and degenerative structures were present at the electrode I parenchymal interface.

Tissue alterations were asymmetrical as observed both around and at the lip of the implanted electrode. The parenchymal alterations extended from 0.2mm to 3.5mm distance from the electrode path/ parenchymal interface.

Greater tissue involvement was found in the subcortical white matter as compared to the adjacent cortical gray matter.

HLA antigen typing was carried out in a family with an autosomal dominant form of spinocerebellar degeneration [possibly olivoponto cerebellar atrophy (O.P.C.A.) — Type 1] . Eleven ataxic patients, three possibly ataxic subjects, two unrelated spouses and 13 clinically normal at risk siblings were typed for ABO and Rh blood groups, HLA-A and HLA-B antigens, C4 component of the complement and a number of other serum proteins (Clq, (β -1A, (β-1C, C5, (β -lipoproteins). No solid evidence for linkage between the ataxia gene and the HLA or C4 loci could be demonstrated in this family. Certain serum proteins, and particularly β -lipoproteins were found to be significantly reduced in some sub-groups of subjects.

An unusual tumor arising in the filum terminale is described. The clinical data revealed an extensive and slowly growing lesion. The histologic picture was characterized by a proliferation of lobules and sheets of regular cells within a rich vascular network. Electron microscopic studies showed light and dark cells with sustentacular extensions. Typical neurosecretory granules were obsen'ed in both cell types, establishing the diagnosis of para-ganglioma. The glomus coccygeum could be the site of this tumor.

Trigeminal neuralgia was the presenting symptom in two patients with aqueduct stenosis, hydrocephalus, and raised intracranial pressure. Treatment of the hydrocephalus resulted in the remission of pain in both patients.

A case of a primary intracranial embryonal carcinoma, the first with ultrastructural study, is reported. The tumor was associated with precocious puberty in a 6½-year-old female. Characteristic embryoid bodies were present. At the ultrastructural level three cell types were noted: undifferentiated, differentiated, and intermediate types. The undifferentiated showed scanty cytoplasmic organelles and numerous free polysomes, while the differentiated cells contained well-developed mitochondria, Golgi apparatus, rough endoplasmic reticulum, and some contained secretory granules. The intermediate cells possessed dilated and irregularly-shaped mitochondria but still retained large numbers of free polysomes. The authors suggest that intracranial germ cell tumors be named in conformity with germ cell tumors in other sites, and that terms such as “ectopic pinealoma” and “atypical teratoma of the pineal” be used no longer.

Friedreich's ataxia is almost always associated with a cardiomyopathy. The cardiomyopathy and its attendant cardiopulmonary sequelae is the usual cause of death in this disease. The author reviews the known pharmacology of the heart, particularly as it applies to hypertrophic cardiomyopathy. The important role played by calcium and the possible role of taurine is stressed. Therapeutic possibilities are mentioned.