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Volume 6, No 3 - Summer 2009

Volume 6, No 3 - Summer 2009

Table of Contents

The Neurofibromatoses. Part 2: NF2 and Schwannomatosis Diagnosis and Treatment Review
The neurofibromatoses, including neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, comprise a group of genetically distinct disorders of the nervous system that are unified by the predisposition to nerve sheath tumors. All 3 types of NF have tumor manifestations (consistent with tumor-suppressor status) and nontumor manifestations. In the second part of this 2-part series, the manifestations of NF2 and schwannomatosis are reviewed. NF2 is characterized by bilateral vestibular schwannomas, meningiomas, ependymomas, cataracts, and epiretinal membranes. The combination of complete hearing loss from vestibular schwannomas and blindness from bifacial weakness is a devastating potential outcome of NF2. Schwannomatosis is characterized by multiple nonvestibular, nonintradermal schwannomas and chronic pain. Recently, germline alterations in the SMARCB1/INI1 gene have been implicated in both familial and sporadic forms of this disorder. Neurologists play an important role in the diagnosis and management of the neurofibromatoses.[Rev Neurol Dis. 2009;6(3):E81-E86 doi: 10.3909/rind0226B]
Clinical Features of Sporadic Fatal Insomnia Diagnosis Update
Recent advances in neuropathology, genotyping, and physiochemical characterization of proteins have allowed for the classification and verification of MM2-thalamic Creutzfeldt-Jakob disease (CJD). CJD is a fatal neurodegenerative illness belonging to the transmissible spongiform encephalopathies, also known as prion diseases. Sporadic CJD is generally classified by the genotype at codon 129 of the prion protein gene and the distinct physiochemical features of the pathologic prion protein (PrPsc). The entity is characterized by methionine homozygosity at codon 129, type 2 PrPsc, and, primarily, thalamic pathology (MM2-thalamic CJD). It shares clinical and pathologic similarities with the genetic prion disorder fatal familial insomnia; the MM2-thalamic phenotype has therefore been called sporadic fatal insomnia (SFI). SFI may also present like other neurodegenerative diseases, and common diagnostic findings that are seen in other forms of sporadic CJD may be absent.[Rev Neurol Dis. 2009;6(3):E87-E93 doi: 10.3909/rind0231]
Best of the 2009 Annual Meeting of the American Academy of Neurology Meeting Review
Highlights From the 61st Annual Meeting of the American Academy of Neurology, April 25-May 2, 2009, Seattle, WA[Rev Neurol Dis. 2009;6(3):E94-E96 doi: 10.3909/rind0242]
A Man in the Barrel With Neck Pain Case Review: Presentation
A 38-year-old man presented with an abrupt onset of occipital and neck pain, radiating to both shoulders. The pain was accompanied by inability to lift his arms against gravity (the “man-in-the-barrel” syndrome). These symptoms were associated with bilateral hand paresthesias, right-sided throbbing headache, vertigo, nausea, and vomiting. All symptoms resolved within 30 minutes, but arm weakness recurred. The differential diagnosis and historical origins of the “man-in-the-barrel” syndrome are reviewed.[Rev Neurol Dis. 2009;6(3):E97 doi: 10.3909/rind0224P1]
Headache News and Views From the Literature