rigidity, axial dystonia, gait disturbance, frontolimbic dementia andother clinical deficits related to neuronal loss, gliosis, and presence ofneurofibrillary tangles and neuropil threads in different brain areas,mainly in the basal ganglia, diencephalon, brainstem, and frontal andtemporal lobes. Although PSP is mostly considered a non-familial orsporadic tauopathy, rare multiplex kindreds have been described. Agenetic basis for familial clustering has been demonstrated in a Spanishfamily with PSP linked to chromosome 1, for which the causal gene isstill unknown, and in familieswith causalmutations in themicrotubule-associated protein tau gene (MAPT).Objective: To identify the causal gene linked to 1q31.1.Patients and methods: We have studied the Spanish family forwhich the genetic locus was mapped to a 3.4 cM region at 1q31.1.This family presents a pathology-proved PSP with a pattern of trans-mission compatible with an autosomal dominant inheritance. We havesequenced the whole-exome from one patient of this family, and DNAfrom 30 additional familymembers is available for segregation analysis.We have also checked the exome sequences of a cohort of about 50 PSPpatients.Results and conclusion: The exome analysis of the Spanish family ispresently on-going. For the PSP cohort no variants were detected inthe linkage region of chromosome 1. Therefore, this locus should notconstitute a common cause of PSP.

doi:10.1016/j.jns.2013.07.407

Abstract — WCN 2013No: 1256Topic: 2 — Movement DisordersTremor associated with Klinefelter syndrome — A case series andreview of the literature

M. Koegl-Wallnera, P. Katschnig-Wintera, T. Pendla, B. Melischa,M. Trummerb, E. Hollb, U. Wernera, R. Schmidta, P. Schwingenschuha.aNeurology, Medical University Graz, Graz, Austria; bNeurosurgery,Medical University Graz, Graz, Austria

Background: Previous case series suggested a link between Klinefeltersyndrome (KS) and essential tremor (ET) or an ET-like syndrome.Methods: We investigated three KS-patients with tremor includingtremor-analyses and discuss our data in context to findings from aliterature review. The clinical outcome after deep brain stimulation(DBS) is also reviewed.Results: Tremor in KS is predominantly a postural and kinetic tremorthat strongly resembles ET. However, KS patients with tremor differfrom ET in several findings such as a less frequent family history, lackof alcohol responsiveness, and missing benefit to drugs used in ET.One of our patients and two cases from literature improved after DBSof the ventral intermediate nucleus (VIM) of the thalamus.Conclusions: Tremor in KS seems to differ from ET. While anti-tremulous drugs exert no or little effect, first observations suggestthat VIM-DBS may be efficacious.

doi:10.1016/j.jns.2013.07.408

Abstract — WCN 2013No: 1237Topic: 2 — Movement DisordersAssessment of thyroid function in spinocerebellar Ataxia type 2Cuban patients

L. Almaguer Mederosa, R. Aguilera Rodrígueza, Y. Cutié Anidob,A. Álvarez Sosac, D. Almaguer Gotaya, D. Cuello Almaralesa. aCenter forthe Investigation and Rehabilitation of Hereditary Ataxias, Cuba; bMedicineSchool of Holguín, Cuba; cV.I.L General Hospital of Holguín, Holguín, Cuba

Background: Dysfunction of thyroid axis has been linked to neuro-degenerative conditions. Spinocerebellar Ataxia type 2 (SCA2) is apolyglutamine disorder caused by abnormal expansion of a CAG repeatsequence on ATXN2 gene.Objective: To assess the association between thyroid function andSCA2.Method: A case-control study was carried out with 41 SCA2 affectedindividuals and 41 healthy controlsmatched by age and sex. Serum levelsof TSH, T3 and T4 were determined by radioimmunoassay. CAG repeatnumber on ATXN2 gene was assessed by PCR and gel electrophoresis.STRING algorithm was used to predict protein network interactions.Results: T3 and T4 serum levels were significantly increased in affectedindividuals related to controls (p b 0.05) and this is dependent onsex. No significant associations were found between thyroid hormonesand bodymass index, abdominal circumference, resting metabolic rate,CAG repeat number, age at onset, disease duration or SARA score(p N 0.05). However, THS serum levels significantly correlated withdisease progression rate (r =−0.32; p = 0.045). Evidences were ob-tained for interactions between ATXN2 and thyroid hormone networks,although the relative weights for such interactions were low.Conclusion: Spinocerebellar Ataxia type 2 is associated with sex-specific hyperactivity of thyrotropic axis; however, more work has tobe done to clarify the clinical consequences of such an association.

doi:10.1016/j.jns.2013.07.409

Abstract — WCN 2013No: 1221Topic: 2 — Movement DisordersAnti-TNF-alpha inhibitors therapy and non infectious neurologicadverse effects

M. Arias, S. Arias-Rivas, X. Rodríguez-Osorio, F.J. López, I. Requena.Neurology, CHUS, Santiago de Compostela, Spain

Background: Infections are the most common adverse effects associ-ated with TNF-alpha-inhibitors (TNF-alfa-I) therapy. Non-infectiousneurologic complications are infrequent (several events suggestive ofdemyelination have been reported).Objective: Present four cases of neurologic disorders (central andperipheral demyelination, pseudotumoral lesion, parkinsonism (2))in four patients treated con distinct TNF-alfa-I.Patients and methods:

Case-1: Patient (F–63-y) with rheumatoid arthritis (RA), treatedwith infliximab; she developed a clinical picture of brachial plexitisand, nine months later, myelitis and lumbar plexitis.

Case-2: Patient (M–58-y) with RA, treated with adalimumab; heconsulted because of headache, weakness and numbness in his rightbody side.

Case-3: Patient (M–63-y) with psoriasis, treated with ustekinumab;he presented a left parkinsonism (PD).

Case-4: Patient (F–57-y) with RA, treated with adalimumab; shepresented a right PD.Results:

Case-1: Cerebral-MRI study was normal; spinal-MR-T2-WI studyshowed some hyperintense lesions in dorsal spinal cord. CSF studyshowed lymphoid pleocytosis. EMG study revealed denervation inthe right deltoid and brachial biceps and in the left quadriceps. Theevolution was favorable after the drug was discontinued.

Case-2: Cerebral-MRI study showed left frontal lesion with masseffect and Gadolinium enhancement. Histopathologic study revealednecrosis and mononuclear cells infiltration. The drug was discon-tinued and the evolution was favorable.

Cases-3–4: Cerebral-MRI study was normal in both patients. DAT-scan resulted abnormal in both patients. The biologic therapy was

Abstracts / Journal of the Neurological Sciences 333 (2013) e109–e151e122