Novel mutations for SPG 11 in a 25-year old woman with hereditary spastic paraparesis and evidence for upper extremity involvement

WCN 2013 No: 2545 Topic: 7 — Neuromuscular disorders Novel mutations for SPG 11 in a 25-year old woman with hereditary spastic paraparesis and evidence for upper extremity involvement K. Lackmayer, C. Baumgartner, P. Schnider, S. Nia, A. Baumgartner, S. Geiblinger, A. Leinweber-Thiel,M. Gencik, K. Hergovich, F. Riederer. Neurological Center Rosenhugel, Karl Landsteiner Institute for Clinical Epilepsy Research and Cognitive Neurology, Vienna, Austria; Neurological Department, Landesklinikum Wiener Neustadt, Wiener Neustadt, Austria; Praxis for Humangenetik, Vienna, Austria Introduction: Familial spastic paraplegia with thin corpus callosum is related tomutations in the genes SPG11, 15 and 18.Mutations in the SPG11 gene have also been described in amyotrophic lateral sclerosis with young onset and a relatively benign course. Objectives: We present a patient with typical spastic paraplegia, with electromyographic evidence for upper extremity involvement. Case report: A 25-year-old woman was admitted because of progressive gait disturbance and muscle cramps since 5 years. Her mother is healthy; the patient has no contact to her father. The clinical neurological examination showed spasticity in both lower limbs with hyperactive reflexes and cloni, a bilaterally positive plantar reflex, a beginning pes equinuus bilaterally, mild ataxia of both lower limbs and slightly saccadic eye movements. Sensory functions were normal. Neuropsychological testing revealed deficits in attention, memory and executive functions. MRI of the brain showed a remarkable thinning of the corpus callosum, MRI of the spinal cord was normal. Serologic testing revealed no evidence for HTLV1 or 2 infections. Nerve conduction studies were normal. Electromyography showed fasciculations and giant potentials consistent with denervation of motor units. Genetic testing for SPG 3 and 4 were negative. Mutations were found in the SPG11 gene, probably consistent with a compound heterozygous state: Three heterozygous mutations were found: c.1621CNT, (known causal mutation) and c.5623CNT and c.6526TNC, which are novel mutations. Conclusion: Upper extremity involvement and an overlapping phenotype with motor neuron disease may be present in familial paraplegia with thin corpus callosum and two novel SPG11 mutations. doi:10.1016/j.jns.2013.07.1696 Abstract — WCN 2013 No: 3048 Topic: 7 — Neuromuscular disorders Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients WCN 2013 No: 3048 Topic: 7 — Neuromuscular disorders Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients B. Myftiu, E. Kocasoy Orhan, B. Baslo. Neurology, American Hospital, Prishtina, Kosovo; Neurology, Istanbul University Faculty of Medicine, Istanbul, Turkey The aim of our study is to examine the bioelectrical activity of nerves and muscles in spinocerebellar (SCA) and Friedreichs' ataxia (FRDA) patients according to a standardized protocol, in order to obtain information about the severity and distribution of peripheral nerve involvement. We examined 18 genetically diagnosed, older than 18 years of age SCA and FRDA patients. Control group was formed by 31 agematched healthy individuals. We performed sensory and motor conduction studies, F responses, needle EMG of proximal and distal muscles, and motor unit number estimations (MUNE) of distal muscles to upper and lower extremities of both groups. Descriptive statistics and group comparisons were done for each recorded parameter. All sensory responses were low in amplitude (p b 0.01) in patients as well as sensory conduction velocity was slow (p b 0.05) for ulnar nerve. Median and peroneal motor amplitudes were also low (p b 0.01). Median, peroneal (p b 0.01), ulnar, and tibial (p b 0.05) motor conduction velocities were significantly slow. MUNE in m. abductor pollicis brevis and m. tibialis anterior muscles were significantly lower in patient group than healthy individuals (p b 0.01). Needle EMG evaluation revealed neurogenic involvement in 1/3 of patients. Polyneuropathy syndrome is frequent in SCA and FRDA patients. Sensory nerves in lower extremities were predominantly involved however, signs of motor dysfunction were also notable. MUNE can provide quantitative information about motor nerve fiber and/or motor neuron involvement. Clinical and electrophysiological findings of peripheric polyneuropathy syndrome were more striking in atactic patients with proven genetic defect. doi:10.1016/j.jns.2013.07.1697 Abstract — WCN 2013 No: 3074 Topic: 7 — Neuromuscular disorders Central nervous system involvement in a patient with acute motor axonal neuropathy and antiganglioside antibodies WCN 2013 No: 3074 Topic: 7 — Neuromuscular disorders Central nervous system involvement in a patient with acute motor axonal neuropathy and antiganglioside antibodies I. Markakis, E. Markaki, D. Tzanetakos, V. Chouliara, G. Gekas. Neurology, ‘St. Panteleimon’ General State Hospital, Nikaia, Greece Background: Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barre syndrome (GBS), usually associatedwith antiganglioside antibodies and Campylobacter jejuni infection. Rarely, AMAN may coexist with signs of central nervous system involvement such as hyperreflexia or asymmetrical weakness. Objective and methods: To report clinical and neurophysiological evidence of central nervous system involvement in a patient with AMAN and positive antiganglioside antibodies. Results: A 64-year-old man was admitted to our department with upper and lower limbweakness, leg paraesthesias and urinary urgency, following a gastrointestinal infection. Neurological examination showed mild tetraparesis with increased tendon reflexes. Cerebrospinal fluid had a normal cell count with increased protein (84 mg/dl). Nerve conduction studies revealed motor axonal polyneuropathy. Serum testing demonstrated high titers of antiGM1 and anti-GQ1b antibodies. C. jejuni was isolated from stool culture. The patient received a 5-day course of intravenous immunoglobulin with no improvement. In fact, leg weakness deteriorated and became asymmetric, whereas voiding required catheterization. Brain and spinal cord MRI was normal. Motor and somatosensory evoked potentials showed prolongation of both motor and sensory central conduction times, confirming central nervous system involvement. One month after symptom onset, weakness and gait difficulty started to improve. After one year of follow-up the patient still presents pyramidal signs and severe disturbance of micturition. Conclusion: This is the first report demonstrating involvement of central motor as well as somatosensory tracts in GBS. The pathogenesis of central nervous system dysfunction may be associated with antiganglioside antibodies but this needs further investigation. doi:10.1016/j.jns.2013.07.1698 Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480 e477