Joseph Ghika

Clinicopathological and molecular biological studies in a patient with neurolymphomatosis

We describe a patient with a clinical disorder that resembled vasculitic neuropathy in which peripheral nerves were successively affected over several months, but without systemic involvement. An initial muscle biopsy near the involved nerves showed signs of nonspecific inflammation around the muscle and nerve fibers. Immunosuppressive treatment resulted in a dramatic reduction in pain, but relapses of the disease eventually occurred, and the patient died 22 months after onset of the first symptoms. Pathologically, a malignant non‐Hodgkins B‐cell lymphoma, restricted to the intra‐ and extradural peripheral nervous system, was found. The demonstration by Southern blotting of immunoglobulin heavy chain gene rearrangement confirmed the monoclonal nature of the lymphomatous cells. In situ hybridization tests for Epstein–Barr and herpes virus subtypes were negative. Our case underlines i) how difficult diagnosis can be despite extensive investigations, ii) the usefulness of immunosuppressive treatment in the early stage of the disease, iii) the importance of immunostaining and genome analysis for distinguishing between different types of human neurolymphomatosis, and iv) the fact that the initial inflammatory process in the muscle biopsy may be interpreted either as a paraneoplastic effect of the lymphoma or as a viral inflammatory neuromyopathy that triggers the development of the malignant lymphoma.

Development of Parkinson and Alzheimer diseases in two cases of narcolepsy-cataplexy.

Case 1 A 69-year-old Caucasian male, suffering from NC since the age of 17, presented to us at the age of 64 years (in 2006). His history included EDS with sleep attacks, hallucinations, frequent cataplexy and occasional sleep paralysis. Patient’s psychomotor development was normal and clinical history unremarkable; in particular, he denied infectious or inflammatory cerebral diseases, head trauma and exposure to toxic agents. During his NC history, the patient underwent several drug treatments (methylphenidate, modafinil, dexedrine, imipramine) with partial benefit on EDS and cataplexy. At that time, he presented the typical HLA haplotype (HLA DQB1 * 0602), undeDear Sir, Narcolepsy (NC) is a sporadic hypersomnia (prevalence 1: 2,000), characterized by excessive daytime sleepiness (EDS) and sleep attacks, typically associated with cataplexy and other REM-sleep related phenomena such as sleep paralysis and hallucinations [1] . In human NC with cataplexy, an association with specific HLA haplotype (DR DQB1 0602) and a deficiency in hypocretin (orexin) peptide in cerebrospinal fluid (CSF) are almost constant findings. The pathogenesis of human NC is still unknown. Autoimmune and neurodegenerative processes of hypothalamic structures have been discussed with more solid evidence for the first theory [2–4] . Most of narcoleptic symptoms develop early after the onset of the disease and usually do not worsen with the progression of the neurodegeneration [2] . Moreover, the absence of ubiquitinated inclusions (cardinal neuropathological finding of most neurodegenerative diseases) in narcoleptic patients argues against the neurodegenerative hypothesis in NC [3] . An autoimmune process involving the hypocretin neurons of lateral hypothalamus has been postulated [4] . There are few reports in the literature showing the occurrence of NC-like symptoms in patients already affected by Parkinson’s disease (PD) and other neurodegenerative diseases [2, 5–7] . Hypocretin neuronal loss has been documented in Received: July 18, 2011 Accepted: October 30, 2011 Published online: December 10, 2011

Treatment of Parkinson’s Disease

In the absence of a specific cause or genetic marker, diagnosis of Parkinson’s disease (PD) is based on clinical features characterized by akinesia, rigidity, tremor at rest, and impairment of postura

Pseudobulbar palsy due to deep-brain stimulation of the thalamic ventral intermediate nuclei

Essential tremor is the most common tremor disorder and s characterized by a symmetric postural and kinetic tremor of he upper extremities, with possible implication of head, lower imbs and voice. This condition can be associated with marked mpairment and medications (mainly beta-blockers and primione) achieve moderate improvement. Since the late 1990s, ventral ntermediate nucleus of the thalamus (Vim) deep-brain stimulation as largely replaced thalamotomy as the intervention of choice for rug-resistant disabling essential tremor.

Ocular mitochondrial myopathy evolving late in life into a disabling proximal myopathy associated with the mitochondrial DNA 3243 A to G mutation

Keywords: Point Mutation Reference LNDC-ARTICLE-2001-002doi:10.1007/s004150170211View record in PubMed Record created on 2010-01-08, modified on 2017-05-12