Autosomal recessive cerebellar ataxia: A clinical and genetic study

Abstract - WCN 2013No: 2699Topic: 7 - Neuromuscular disordersPeripheral neuropathy in neurofibromatoses

M. Polonia, R. Barbòb. aNeurosciences, HPG 23, Bergamo, Italy;bNeurosciences, ICH Gavazzeni, Bergamo, Italy

Neurofibromas are benign tumors which originate from peripheralnerves and are, together with others pathognomonic symptoms, acommon finding in Neurofibromatosis 1 (NF1) conversely Neurofibro-matosis 2 (NF2) or central neurofibromatosis is characterized byabnormal growth of Schwann cell tumors called schwannomas (SCH)at vestibular nerves, beyond meningiomas, ependimomas and SCHs ofother cranial nerves or different Central Nervous System (CNS) tumors.NF1 is a genetic disorder transmitted thorough chromosome 17 dueto neurofibromin alterations and abnormal tumors growth with rareMalignant Peripheral Nerve Tumors (MPNT), while NF2 is linked tomerlin abnormalities and is at same genetically transmitted butthrough chromosome 22.Peripheral neuropathy (PN) appears rarely in NF1, ranging from 0 to 4.3% of patients in different casistics, while retains only instrumentalevidence in NF2 where mononeuropathy, generally as a foot drop or afacial palsy, is relatively common.Three interesting cases of important and distressing peripheralneuropathy, one affected by NF1 and two brothers affected by NF2,have been seen and studied at the NF Ambulatorial Center ofBergamo: we want to share the clinical and instrumental character-istics of these patients, discussing the differential diagnosis andarguing the different pathogenetic mechanisms.

doi:10.1016/j.jns.2013.07.1666

Abstract - WCN 2013No: 2686Topic: 7 - Neuromuscular disordersFacial onset sensory and motor neuronopathy: Aneurodegenerative TDP-43 proteinopathy?

E.P. Boscha, B.P. Goodmana, J.A. Tracyb, P.J.B. Dyckb, C. Gianninic.aNeurology, Mayo Clinic Arizona, Scottsdale, AZ, USA; bNeurology, MayoClinic Rochester, Rochester, MN, USA; cPathology, Mayo Clinic Rochester,Rochester, MN, USA

Background: Vucic et al. (Brain, 2006) described four adult maleswith facial sensory loss gradually spreading to cervical and brachialdermatomes associated with LMN weakness of cranio-bulbar andupper extremity (UE) distribution. Autopsy suggested a neurode-generative process affecting motor neurons and sensory ganglia.Objective: We report clinical, electrophysiologic and pathologicfeatures of six new cases of facial onset sensory and motorneuronopathy or FOSMN syndrome.Design and methods: A retrospective review of patients referred toMayo Clinic from 2004 to 2012 identified six males who met theclinical features of FOSMN.Results: The age of onset ranged from 55 to 63 years. The presentingsymptoms, years after onset, were facial numbness (5), dysphagia(3), and masseter weakness (2). Sensory loss spread to scalp, neck,upper torso and distal UEs. Patients developed facial, masseter,bulbar, neck flexor/extensor and LMN weakness of UEs. Four patientsdied of complications 6 to 9 years after onset. Electrodiagnosticstudies revealed blink reflex abnormalities, reduced sensory nerveaction potentials in UEs, and chronic denervation mainly in cranialand cervical regions. Biopsies of greater auricular nerves revealedlow grade axonal degeneration. One patient came to autopsy:Neuronal loss and gliosis with TDP-43 positive cytoplasmic neuronal

and glial inclusions were present in hyploglossal nucleus and cervicalmotor neurons.Conclusion: FOSMN syndrome is a rare, progressive disorderaffecting sensory and motor neurons in a cranio-caudal descendingdistribution. FOSMN syndrome joins sporadic ALS, frontotemporallobar degeneration (FTLD-U) and other neurodegenerative disordersas a TDP-43 proteinopathy.

doi:10.1016/j.jns.2013.07.1667

Abstract - WCN 2013No: 760Topic: 7 - Neuromuscular disordersVulnerability of thenar muscle and sensory neuronopathy inpatients with amyotrophic lateral sclerosis (ALS)

C.-H. Kima, S.-Y. Kwonb. aPhysical Medicine & Rehabilitation, InhaUniversity, Inchon, Republic of Korea; bPhysical Medicine & Rehabilitation,Inha University Hospital, Inchon, Republic of Korea

Background: Among them thenar muscles were weakened earlier inamyotrophic lateral sclerosis (ALS).Objective: To figure out whether that happens due to the earlyvulnerability of median nerve or susceptible overlapping peripheralneuropathy such as carpal tunnel syndrome (CTS).Patients and methods: We selected 35 cases of ALS patients whohad full electrophysiologic data and 50 age-matched control cases.We excluded pediatric patients and patients with incompletemedical records. Mean age of ALS patients was 61.7 ± 11.1 years,and that of control was 53.5 ± 13.9 years.Results: In control subjects, comparison of median to ulnar CMAPamplitudes showed no statistical difference (median 7.7 ± 1.8 mV,ulnar 7.7 ± 1.7 mV, p = 0.00). Also, CNAP amplitudes showed astatistical difference (median 41.5 ± 18.5 μV, ulnar 36.5 ± 17.3 μV,p = 0.04), whereas sensory nerve conduction velocity (NCV) showedno significant difference (median 45.5 ± 4.0 m/s, ulnar 45.6 ± 7.6 m/s,p = 0.95) by T test.In ALS patients, comparison of CMAP amplitude (median 3.9 ±2.7 mV, ulnar 5.5 ± 2.4 mV, p = 0.00) and MDL showed significantdifference (median 4.1 ± 0.9 ms, ulnar 3.1 ± 0.5 ms, p = 0.00) by Ttest. In contrast, comparison of CNAP amplitudes showed nostatistical difference (median 22.0 ± 11.4 μV, ulnar 19.9 ± 8.8 μV,p = 0.37), and so did the sensory NCV (median 41.5 ± 7.6 m/s, ulnar42.0 ± 5.9 m/s, p = 0.58) by T test.Conclusion: We reconfirm that thenar muscles were more vulner-able than hypothenar muscles in ALS patients.

doi:10.1016/j.jns.2013.07.1668

Abstract - WCN 2013No: 2664Topic: 7 - Neuromuscular disordersDermatomyositis in elderly, disease that should be recognized —

case report

M. Perovskaa, K. Majstorovicb, A. Arsovskac. aUniversity Clinic ofNeurology Skopje, Ohrid, The Former Yugoslav Republic of Macedonia;bInstitute of Nephrology Struga, Ohrid, The Former Yugoslav Republic ofMacedonia; cUniversity Clinic of Neurology Skopje, Skopje, FYROM —

The Former Yugoslav Republic of Macedonia

Our aim was to present late onset of dermatomyositis as a chronicautoimmune condition, importance in differential diagnosis with otherconditions and the possibility of underlying malignancy.

Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480e468