Abstract Details

Title Clinical and Genetic Characteristics of Five Turkish Families with UBQLN2 Mutations

Topic Anterior Horn

Presentation(s) P05 - (-)

Poster/Presentation
Number 078

Objective

Background BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease, caused by degeneration of upper and lower motor neurons. Most cases of ALS are sporadic but about 5 to 10% are familial (fALS). UBQLN2 gene, which encodes ubiquilin-2, a member of the ubiquitin-like protein family, has recently been associated with X-linked ALS.

Design/Methods DESIGN/METHODS: Clinical and genetic findings of seven patients with UBQLN2 mutations from five unrelated Turkish families diagnosed with possible, probable, or definite ALS by El Escorial criteria at the Department of Neurology, Istanbul Medical Faculty were evaluated. The samples were collected with the approval of the relevant institutional ethics boards, and informed written consent was obtained from each participant.

Results RESULTS: UBQLN2 genes of 266 Turkish SOD1-negative ALS patients (71 familial, 191 sporadic cases) were directly sequenced using five overlapping primers. We identified UBQLN2 mutations in five fALS patients (7%) from three unrelated families and two sporadic cases. Three of them carried novel missense mutations (p.F65F, p.S340I and p.P506S). Two of them were female. The mean age of onset was 20.7±7.84 (between 7 and 36) years. None of our patients had dementia. Three of them presented with weakness and muscle wasting of one hand, three with bulbar dysfunction symptoms, and one with foot drop. Four of our patients had prominent lower motor signs at the onset of disease. Two patients died during follow-up because of respiratory complications, five and nine years after the onset of disease.

Conclusions CONCLUSIONS: We suggest that UBQLN2 mutations are not rare among Turkish fALS patients.

Authors/Disclosures
Hacer Durmus, MD (Department of Neurology, Istanbul Faculty of Medicine) PRESENTER	Dr. Durmus has nothing to disclose.
	No disclosure on file
Feza Deymeer, MD (Memorial Sisli Hospital)	No disclosure on file
Piraye Serdaroglu, MD (Istanbul University School of Medicine)	No disclosure on file
	No disclosure on file
Mustafa Ertas	No disclosure on file
	No disclosure on file
Nazli Basak	No disclosure on file
Maarten G. Lansberg, MD (Stanford Stroke Center)	Dr. Lansberg has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Richard & Connor. Dr. Lansberg has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Keating Jones Hughes. Dr. Lansberg has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Chason, Rosner, Leary & Marshall. Dr. Lansberg has received publishing royalties from a publication relating to health care.
	No disclosure on file

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