OBJECTIVE: To derive an algorithm for genetic testing of patients with frontotemporal lobar degeneration (FTLD). METHODS: A literature search was performed to review the clinical and pathologic phenotypes and family history associated with each FTLD gene. RESULTS: Based on the literature review, an algorithm was developed to allow clinicians to use the clinical and neuroimaging phenotypes of the patient and the family history and autopsy information to decide whether or not genetic testing is warranted, and if so, the order for appropriate tests. CONCLUSIONS: Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions.
OBJECTIVE: To derive an algorithm for genetic testing of patients with frontotemporal lobar degeneration (FTLD). METHODS: A literature search was performed to review the clinical and pathologic phenotypes and family history associated with each FTLD gene. RESULTS: Based on the literature review, an algorithm was developed to allow clinicians to use the clinical and neuroimaging phenotypes of the patient and the family history and autopsy information to decide whether or not genetic testing is warranted, and if so, the order for appropriate tests. CONCLUSIONS: Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions.
Authors: Thomas Bird; David Knopman; John VanSwieten; Sonia Rosso; Howard Feldman; Hirotaka Tanabe; Neil Graff-Raford; Daniel Geschwind; Patrice Verpillat; Michael Hutton Journal: Ann Neurol Date: 2003 Impact factor: 10.422
Authors: P Poorkaj; T D Bird; E Wijsman; E Nemens; R M Garruto; L Anderson; A Andreadis; W C Wiederholt; M Raskind; G D Schellenberg Journal: Ann Neurol Date: 1998-06 Impact factor: 10.422
Authors: S M Pickering-Brown; A M T Richardson; J S Snowden; A M McDonagh; A Burns; W Braude; M Baker; W-K Liu; S-H Yen; J Hardy; M Hutton; Y Davies; D Allsop; D Craufurd; D Neary; D M A Mann Journal: Brain Date: 2002-04 Impact factor: 13.501
Authors: P Poorkaj; M Grossman; E Steinbart; H Payami; A Sadovnick; D Nochlin; T Tabira; J Q Trojanowski; S Borson; D Galasko; S Reich; B Quinn; G Schellenberg; T D Bird Journal: Arch Neurol Date: 2001-03
Authors: M Hutton; C L Lendon; P Rizzu; M Baker; S Froelich; H Houlden; S Pickering-Brown; S Chakraverty; A Isaacs; A Grover; J Hackett; J Adamson; S Lincoln; D Dickson; P Davies; R C Petersen; M Stevens; E de Graaff; E Wauters; J van Baren; M Hillebrand; M Joosse; J M Kwon; P Nowotny; L K Che; J Norton; J C Morris; L A Reed; J Trojanowski; H Basun; L Lannfelt; M Neystat; S Fahn; F Dark; T Tannenberg; P R Dodd; N Hayward; J B Kwok; P R Schofield; A Andreadis; J Snowden; D Craufurd; D Neary; F Owen; B A Oostra; J Hardy; A Goate; J van Swieten; D Mann; T Lynch; P Heutink Journal: Nature Date: 1998-06-18 Impact factor: 49.962
Authors: Giles D J Watts; Jill Wymer; Margaret J Kovach; Sarju G Mehta; Steven Mumm; Daniel Darvish; Alan Pestronk; Michael P Whyte; Virginia E Kimonis Journal: Nat Genet Date: 2004-03-21 Impact factor: 38.330
Authors: Bruce L Miller; Bradford C Dickerson; Diane E Lucente; Mykol Larvie; Matthew P Frosch Journal: N Engl J Med Date: 2015-03-19 Impact factor: 91.245
Authors: Adam L Boxer; Michael Gold; Edward Huey; Fen-Biao Gao; Edward A Burton; Tiffany Chow; Aimee Kao; Blair R Leavitt; Bruce Lamb; Megan Grether; David Knopman; Nigel J Cairns; Ian R Mackenzie; Laura Mitic; Erik D Roberson; Daniel Van Kammen; Marc Cantillon; Kathleen Zahs; Stephen Salloway; John Morris; Gary Tong; Howard Feldman; Howard Fillit; Susan Dickinson; Zaven Khachaturian; Margaret Sutherland; Robert Farese; Bruce L Miller; Jeffrey Cummings Journal: Alzheimers Dement Date: 2012-10-05 Impact factor: 21.566