BACKGROUND: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. METHODS: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. RESULTS: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. CONCLUSION: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.
BACKGROUND:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. METHODS: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. RESULTS: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. CONCLUSION: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.
Authors: Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers Journal: Neuron Date: 2011-09-21 Impact factor: 17.173
Authors: Rodolfo Savica; Anahita Adeli; Prashanthi Vemuri; David S Knopman; Mariely Dejesus-Hernandez; Rosa Rademakers; Julie A Fields; Jennifer Whitwell; Clifford R Jack; Val Lowe; Ronald C Petersen; Bradley F Boeve Journal: Arch Neurol Date: 2012-09
Authors: D Neary; J S Snowden; D M Mann; B Northen; P J Goulding; N Macdermott Journal: J Neurol Neurosurg Psychiatry Date: 1990-01 Impact factor: 10.154
Authors: Bradley N Smith; Stephen Newhouse; Aleksey Shatunov; Caroline Vance; Simon Topp; Lauren Johnson; Jack Miller; Younbok Lee; Claire Troakes; Kirsten M Scott; Ashley Jones; Ian Gray; Jamie Wright; Tibor Hortobágyi; Safa Al-Sarraj; Boris Rogelj; John Powell; Michelle Lupton; Simon Lovestone; Peter C Sapp; Markus Weber; Peter J Nestor; Helenius J Schelhaas; Anneloor Alm Ten Asbroek; Vincenzo Silani; Cinzia Gellera; Franco Taroni; Nicola Ticozzi; Leonard Van den Berg; Jan Veldink; Phillip Van Damme; Wim Robberecht; Pamela J Shaw; Janine Kirby; Hardev Pall; Karen E Morrison; Alex Morris; Jacqueline de Belleroche; J M B Vianney de Jong; Frank Baas; Peter M Andersen; John Landers; Robert H Brown; Michael E Weale; Ammar Al-Chalabi; Christopher E Shaw Journal: Eur J Hum Genet Date: 2012-06-13 Impact factor: 4.246
Authors: Bradley F Boeve; Kevin B Boylan; Neill R Graff-Radford; Mariely DeJesus-Hernandez; David S Knopman; Otto Pedraza; Prashanthi Vemuri; David Jones; Val Lowe; Melissa E Murray; Dennis W Dickson; Keith A Josephs; Beth K Rush; Mary M Machulda; Julie A Fields; Tanis J Ferman; Matthew Baker; Nicola J Rutherford; Jennifer Adamson; Zbigniew K Wszolek; Anahita Adeli; Rodolfo Savica; Brendon Boot; Karen M Kuntz; Ralitza Gavrilova; Andrew Reeves; Jennifer Whitwell; Kejal Kantarci; Clifford R Jack; Joseph E Parisi; John A Lucas; Ronald C Petersen; Rosa Rademakers Journal: Brain Date: 2012-03 Impact factor: 13.501
Authors: Anna-Lotta Kaivorinne; Michaela K Bode; Liisa Paavola; Hannu Tuominen; Mika Kallio; Alan E Renton; Bryan J Traynor; Virpi Moilanen; Anne M Remes Journal: Dement Geriatr Cogn Dis Extra Date: 2013-08-20