BACKGROUND: In 2011 the C9ORF72 repeat expansion was identified as the most frequent genetic mutation underlying FTD and ALS. The main aim of this study was to investigate clinical characteristics in a large C9ORF72-positive FTD family, and to compare these with the neuropathological findings. METHODS: The clinical records of 12 related FTD patients were thoroughly evaluated. The five neuropathologically examined cases were revised using additional TDP-43 immuno-stainings. Four cases were screened for the C9ORF72 expansion. RESULTS: All 12 patients fulfilled the criteria for bvFTD. Restlessness and social neglect were often among the first reported symptoms. Psychotic symptoms were reported in 8 patients. Somatic complaints were seen in 7 cases. All the neuropathologically examined cases were TDP-43 positive. CONCLUSIONS: The phenotype of this C9ORF72 hexanucleotide expansion carrier family was bvFTD. The clinical symptom profile was strikingly homogenous. Psychotic symptoms and somatic complaints were observed in most of the cases.
BACKGROUND: In 2011 the C9ORF72 repeat expansion was identified as the most frequent genetic mutation underlying FTD and ALS. The main aim of this study was to investigate clinical characteristics in a large C9ORF72-positive FTD family, and to compare these with the neuropathological findings. METHODS: The clinical records of 12 related FTDpatients were thoroughly evaluated. The five neuropathologically examined cases were revised using additional TDP-43 immuno-stainings. Four cases were screened for the C9ORF72 expansion. RESULTS: All 12 patients fulfilled the criteria for bvFTD. Restlessness and social neglect were often among the first reported symptoms. Psychotic symptoms were reported in 8 patients. Somatic complaints were seen in 7 cases. All the neuropathologically examined cases were TDP-43 positive. CONCLUSIONS: The phenotype of this C9ORF72hexanucleotide expansion carrier family was bvFTD. The clinical symptom profile was strikingly homogenous. Psychotic symptoms and somatic complaints were observed in most of the cases.
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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 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: Jennifer L Whitwell; Stephen D Weigand; Bradley F Boeve; Matthew L Senjem; Jeffrey L Gunter; Mariely DeJesus-Hernandez; Nicola J Rutherford; Matthew Baker; David S Knopman; Zbigniew K Wszolek; Joseph E Parisi; Dennis W Dickson; Ronald C Petersen; Rosa Rademakers; Clifford R Jack; Keith A Josephs Journal: Brain Date: 2012-03 Impact factor: 13.501
Authors: Maria Landqvist Waldö; Alexander Frizell Santillo; Lars Gustafson; Elisabet Englund; Ulla Passant Journal: Am J Neurodegener Dis Date: 2014-09-06
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