02176nas a2200349   4500000000100000008004100001260001300042653001000055653000900065653001800074653001100092653000900103653001600112653001800128653002100146653003100167653002200198653001600220653002200236653001300258100001200271700001100283700001400294700001800308700002100326700001100347245009700358300001200455490000800467520133700475022001401812       2006                            d  c2006 Dec10aAdult10aFace10aFatal Outcome10aHumans10aMale10aMiddle Aged10aMotor Neurons10aMuscle, Skeletal10aNeurodegenerative Diseases10aNeurons, Afferent10aParesthesia10aPeripheral nerves10aSyndrome1 aVucic S1 aTian D1 aChong STP1 aCudkowicz M E1 aHedley-Whyte E T1 aCros D00aFacial onset sensory and motor neuronopathy (FOSMN syndrome): a novel syndrome in neurology.  a3384-900 v1293 a<p>A 'syringomyelia-like' syndrome has been infrequently reported in neurological disorders such as Tangiers disease and lepromatous leprosy. This study reports a novel 'syringomyelia-like' syndrome in four adult male patients, which we have termed facial onset sensory and motor neuronopathy, or FOSMN syndrome, that appears to have a neurodegenerative aetiology. Clinical, neurophysiological and pathological data of four patients were reviewed, including the autopsy in one patient. Four male patients (mean age at onset 43), initially developed paraesthesiae and numbness in a trigeminal nerve distribution, which slowly progressed to involve the scalp, neck, upper trunk and upper limbs in sequential order. Motor manifestations, including cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy developed later in the course of the illness. Neurophysiological findings revealed a generalized sensory motor neuronopathy of caudally decreasing severity in all four patients. Autopsy in one patient disclosed loss of motoneurons in the hypoglossal nucleus and cervical anterior horns, along with loss of sensory neurons in the main trigeminal sensory nucleus and dorsal root ganglia. FOSMN syndrome appears to be a slowly progressive neurodegenerative disorder, whose pathogenesis remains to be determined.</p>  a1460-2156