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Dyck et al. - Polyneut'Opathy

myelin sheath, most commonly at the poles of Schwann cell nuclei, adjacent to Schmidt-Lantermann incisures and near nodes of Ranvier. In addition, lipid droplets or myelin ovoids with intact myelin lamellae might additionally be associated with some of the structures mentioned. In some myelinated and unmyelinated fibers, glycogen particles appeared to be increased diffusely in the Sohwann cell cytoplasm. Occasionally the axis cylinders of unmyelinated and myelinated fibers were densely packed with glycogen granules and mitochondria. These mitochondria as well as those in Schwann cell cytoplasm were sometimes unusually large and abnormally structured. We have seen Schwarm cell cytoplasmic lamellar bodies and aggregates of glycogen particles and mitochondria in the Schwarm cell cytoplasm of sural nerves from persons without disease of nerve. These aggregates are smaller and less numerous than in Cases 1 and 2.

The Hereditary Torsion Dystonias (Dystonia Musculorum Deformans): Geographical Distribution and IQ in Dominant and Recessive Forms




New York, New York

Personal study of 137 individuals with torsion dystonia (TD), found by examining 395 members in 87 families, and review of 476 reported cases, indicates that there are at least two hereditary forms of TD in addition to the acquired dystonias (Eldridge et al, 1967). Autosomal recessive TD, with onset generally between the ages of four and sixteen and a rapid initial course, has been found in highest frequency in Ashkenazi Jewish populations. Geographical distribution of this form of dystonia mirrors the shift in the Ashkenazi population that has occurred in this century. Eight cases were reported among Polish Jews before 1940 when the average Jewish population of Poland was approximately 3~~million; no cases have been reported since 1940 when the Jewish population was reduced to less than 100,000. Conversely, no cases were reported from Palestine before 1940 but a recent check with neurologic centers in Israel revealed 27 reports of dystonia. A recent survey of all neurologic and neurosurgical centers in the United States indicates the frequency of this recessively inherited disease in the Jewish population to be 1 in 40,000. If correct, 1. of every 100 Ashkenazi Jews in this country is a carrier of the gene for this trait. .

Eldrige et al. - Hereditary Torsion Dystonias


The autosomal dominant fonn of torsion dystonia is more variable in its age of onset and clinical course. Torticollis is frequently the initial symptom in this form. Families with successive generations affected with this trait have been reported in many populations. One large family has been reported from Sweden but perhaps more interesting from a genetic standpoint is that at least 3 of the 17 families with the autosomal dominant form in this series are of French Canadian extraction. IQ Results Data obtained on a group of patients with the autosomal recessive form of TD and their siblings indicate that the gene for recessive TD increases intelligence. Results of individual and group intelligence and achievement tests administered by public and private school personnel have been collected for all available patients with autosomal recessive TD and their siblings. Controls were selected for each patient and each sib on the basis of similar age, sex, economic background and ethnic background. In computing results for patients, only those tests administered before onset of symptoms were used. To date the study group consists of 24 individuals. Individual IQ scores in the patient group range from III to 170 with a mean of 131 and a standard deviation of 17.3. The controls for this group have scores ranging from 92 to 127 with a mean of 113 and standard deviation of 13.8. The difference between the mean IQ's for these two groups is significant at a level of P = .04. Siblings have scores ranging from 97 to 146 with a mean IQ of 118 and standard deviation of 11.4. Their control group has an IQ range of 91 to 127 with mean of 108 and standard deviation of 15.7. The difference between these two groups is not statistically significant with p= .09. Analysis of achievement tests indicate that, in general, both reading and mathematical performance are higher in patients and sibs than in their respective control groups. No difference was found between the mathematical achievement and the reading achievement of patients or sibs. Contrary to the reported association of TD with mental retardation, this study of intelligence in a small group of cases of autosomal recessive TD indicates those with this disorder perform better intellectually than .an unaffected but otherwise similar population. If there is an intellectual advantage conferred by the gene, this would explain the gene's high frequency in a population which over many generations may have been unusually sensitive to selection based on intelligence. In contrast to the superior intelligence of the patients with the reces-


Eldridge et al. -:-Hereditary Torsion Dystonias

sive form of TD, families with the dominant trait often include individuals with below average IQ. These individuals mayor may not have the dystonia trait. Perhaps the low IQ is a consequence of the stigma in the family rather than a direct effect of the gene for dominant TD. Members of families in which this disorder appears in successive generations, whether affected or not, may have a reduced selection of mates and therefore have to settle lower in the economic and social strata than otherwise. As the trait is perpetuated over successive generations, affected and unaffected individuals may well find themselves in poorer environments, both genetically and physically. Mental retardation in this setting would be a reflection of these generally poorer circumstances rather than a direct consequence of the gene for dominant TD. The decreasing social and economic fortunes of several families over the three or four generations that the trait has been present suggests such an explanation.

Acid Maltase Deficiency of Adult Life



Rochester, Minnesota

In 1959 di Sant'Agnese considered marked cardiac enlargement, generalized glycogen storage, normal glycogen structure, preserved glycogenolysis in liver. and muscle, and death in infancy to be the diagnostic criteria of "cardiomegalia glyccgenica," the disease described by Pompe in 1931. However, since Hers' discovery in 1961 of acid maltase deficiency in infantile cases of generalized glycogenosis, the same enzymatic defect was also detected in children and adolescents with mild or no cardiac involve" ment and with a course simulating muscular dystrophy. Altogether 11 such cases, ranging in age from three to nineteen at the time of diagnosis, have been reported to date. The object of this presentation is to show that acid. . maltase deficiency can also present as a syndrome of muscular weakness in adult life. Three adult cases of acid maltase deficiency were studied at the Mayo Clinic during the past three years. Morphologic and preliminary biochemical observations in the first case were reported in 1968. Another report of acid maltase deficiency presenting with weakness in adult life was published in 1968 (Hudgson et al). The Bndings in the second and third cases studied at the Mayo Clinic are presented herein. The second patient (Case 2) was a 44-year-old woman WIth slowly progressive weakness of the truncal and extremity muscles for 13 years. During this time her calf muscles became slightly enlarged and the serum creatine phosphokinase was found to be elevated. Muscular dystrophy was