We report a familial disorder occurring in three patients that presented as frontotemporal dementia (FTD). A neuropathological study was performed in a 58-year-old patient, who developed FTD 2 years prior to the onset of motor neuron disease (MND), and died at age 62. Lesions indicative of associated MND were observed: neuronal loss in the anterior horns of the spinal cord, Bunina bodies, axonal spheroids, degeneration of the pyramidal tracts, and of FTD: decreased neuronal density and laminar microvacuolation of layers II and III in the frontal and temporal cortex. Ubiquitin-only-immunoreactive changes were found in the spinal cord and medulla, but were absent from the temporal and frontal cortex. There were also widespread deposits of various neuronal and glial inclusions containing abnormally phosphorylated tau protein, the Western blotting pattern of which was characterized by two major bands of 64 and 69 kDa. There were no abnormalities of the entire coding sequences of microtubule-associated protein tau (MAPT) and copper-zinc superoxide dismutase (SOD(1)) genes. Our results suggest that FTD associated with MND can be caused by a larger spectrum of neuropathological lesions than commonly accepted.
In response to an inquiry by Drs. Lerner and Miodownik, American Academy of Neurology (AAN) guideline authors Bhidayasiri et al. discuss how relevant studies are analyzed and classified for potential inclusion in AAN practice guidelines. The painstaking process used in the development of AAN practice guidelines is described in detail in the Clinical Practice Guideline Process Manual (http://tools.aan.com/globals/axon/assets/9023.pdf) available to AAN members and the public on the AAN Web site.
A 48-year-old man developed progressive vertigo, ataxia, and dysarthria. MRI demonstrated gadolinium-enhancing abnormalities in the pons and cerebellar peduncles (figure, A). Further investigations excluded neurosarcoidosis, CNS lymphoma, granulomatosis, and paraneoplastic or
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