Sural nerve findings in a patient with the features of the syndrome of multiple mucosal neuromas are described. Hypertrophy with onion-bulb formation without signs of segmental de- and re-myelination or axonal de- and regeneration of myelinated fibers was found.

The principal biochemical abnormality in the neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD) is elevated plasma and tissue levels of very long-chain fatty acids (VLCFA). Enzymes with very long-chain acyl-CoA synthetase (VLACS) activity are required for VLCFA metabolism, including degradation by peroxisomal β-oxidation or incorporation into complex lipids, and may also participate in VLCFA synthesis. Two enzymes with VLACS activity, ACSVL1 and BG1, were investigated for their potential role in X-ALD biochemical pathology. Skin fibroblast mRNA levels for ACSVL1, an enzyme previously shown to be in peroxisomes and to participate in VLCFA β-oxidation, were not significantly different between normal controls, patients with childhood cerebral X-ALD, and patients with adrenomyeloneuropathy. Similar results were obtained with mRNA for BG1, a non-peroxisomal enzyme that is highly expressed in nervous system, adrenal gland, and testis, the principal tissues pathologically affected in X-ALD. No significant differences in the immunohistochemical staining patterns of tissues expressing either ACSVL1 or BG1 were observed when wild-type and X-ALD mice were compared. Western blot analysis of BG1 protein levels showed no differences between fibroblasts from controls, cerebral X-ALD, or adrenomyeloneuropathy patients. BG1 protein levels were similar in wild-type and X-ALD mouse brain, spinal cord, testis, and adrenal gland. We hypothesized that one function of BG1 was to direct VLCFA into the cholesterol ester synthesis pathway. However, BG1 depletion in Neuro2a cells using RNA interference did not decrease incorporation of labeled VLCFA into cholesterol esters. We conclude that the role, if any, of ACSVL1 and BG1 in X-ALD biochemical pathology is indirect.

The neuropathological changes of infantile spinal muscular atrophy (ISMA) are not confined to the spinal cord or the brainstem. Corresponding changes have been described in the thalamus, the cerebellum, the corpora Luysi, the inferior olive, the pons, the vestibular nuclei, the globus pallidus, the caudate nuclei and in the dorsal root ganglia. Apart from degenerative changes, malformations have been described too, especially with regard to the cerebellum. Changes in the cerebral cortex are rare, except for those ascribed to hypoxia. Agenesis of the corpus callosum (ACC) is known to be associated with a great number of other malformations, including malformations of the geni-to-urinary System, of the cardiovascular System and of the musculoskeletal System. Central nervous System abnormalities include those of the pyramidal tracts- hydrocephalus with aquaduct Stenosis, gyral anomalies, heterotopias and cerebellar hypoplasia (5). The Symptoms and the prognosis are related to the severity of the associated malformations (2,4) . Only a few Syndromes exist with ACC as one of the major features: the Aicardisyndrome and the AndermannSyndrom (1,3). The association of ACC with lower motor neuron disease has not been described before.

We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spinal cord was made. It was concluded that both the central and the peripheral nervous system were involved in CTX, but the peripheral system only to a slight degree, and that the pathology was predominantly neuroaxonal rather than demyelinating in character.

We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.