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[...]she was able to eat and to communicate in a simplified fashion. Ongoing research suggests that substrate reduction treatment may be able to halt or slow progression of the disease, particularly in milder cases such as the one presented. 4 At present, clinical trials with an inhibitor of glycosphingolipid biosynthesis (miglustat) are under way in patients with NPC. 5 To enable such treatment, however, the organic cause also has to be identified early in patients with psychiatric presentations. [...]there is need for a thorough physical and biochemical assessment in such patients to avoid missing these sorts of diagnosis.

[...]these patients have the clinical characteristics and distinct MRI pattern of LBSL, 1, 2 which is different from those seen in all other known leucoencephalopathies. 3 However, despite repeated examinations and the full blown disease pattern on MRI in our patients, we did not detect increased lactate levels on MRS and in serum and cerebrospinal fluid, although we detected decreased N-acetylaspartate and increased choline levels, as previously described for LBSL. 1 Besides the MRI changes, increased lactate on MRS has been considered the only consistently abnormal finding among all indices tested. 4 Moreover, in most patients described to date, motor deterioration started relatively early (5+-4 years), with some patients showing delayed development from birth onwards. 1, 2 Our cases show that LBSL may begin in adulthood in some instances, and that increased lactate levels on MRS may be missing even at advanced disease stages. [...]our findings suggest that until a critical number of informative families has been collected for a genetic linkage study and genetic testing ultimately becomes available, the diagnosis of LBSL is based on the suggestive MRI findings and the exclusion of other leucoencephalopathies by a complete metabolic screen.

Although patient series of clinical, electrophysiological, or magnetic resonance imaging evidence for involvement of the central nervous system in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been published, the histological proof has never been reported. We present the case of a 46-year-old male patient who developed CIDP in his early 20s and who died of relapsing severe pneumonia. In late stages of the disease the patient presented visual loss and bilateral atrophy of the optic nerve. Neuropathological examination revealed severe peripheral neuropathy consistent with CIDP and central involvement with bilateral optic neuritis. This is the first case reporting CIDP and histologically proven optic neuritis.

Although inflammatory demyelination is considered to be the key feature in multiple sclerosis (MS) pathogenesis, histopathological investigations and MRI studies recently highlighted the extent of neuronal damage that occurs even in the early stages of the disease. We report the unusual case of a patient with Machado-Joseph disease (MJD; spinocerebellar ataxia (SCA) III) and discuss this coincidence in light current pathogenetic paradigms of CNS autoimmunity.

The case of a 38-year-old patient with rapidly progressing motor neuron disease, complicated by major dysfunction of the extrapyramidal system and of vertical gaze is described. Neuropathological examination revealed a degenerative process that severely affected the lower motor neurons, as well as the neurons of the pars compacta of the substantia nigra, the nucleus of Darkschewitsch, the nucleus interstitialis of Cajal, the colliculi superiores, and the pallidum. The long tracts were unaffected at all levels of the brain stem and spinal cord. There was no convincing evidence for the presence of a multiple system atrophy or progressive supranuclear palsy; the results rather revealed a pattern of vulnerability characteristic of a variant of motor neuron disease.