Frontotemporal Lobar Degeneration: Genetics and Clinical Phenotypes

2014 ◽  
pp. 93-109
Author(s):  
Maria Serpente ◽  
Daniela Galimberti
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
Clinical Phenotypes

scholarly journals Measurement and characterization of distinctive clinical phenotypes using the Frontotemporal Lobar Degeneration Module (FTLD‐MOD)

2020 ◽  
Vol 16 (6) ◽  
pp. 918-925
Author(s):  
Tamar Gefen ◽  
Merilee A. Teylan ◽  
Lilah Besser ◽  
Emma Pollner ◽  
Anna Moshkovich ◽  
...  
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
Clinical Phenotypes

scholarly journals Neither white nor black: embracing clinical variability in dementia diagnosis

Brain ◽  
2020 ◽  
Vol 143 (5) ◽  
pp. 1291-1293
Author(s):  
Olivier Piguet
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
Dementia Diagnosis ◽  
Clinical Variability ◽  
Clinical Phenotypes

This scientific commentary refers to ‘Redefining the multidimensional clinical phenotypes of frontotemporal lobar degeneration syndromes’, by Murley etal. (doi:10.1093/brain/awaa097).

Frontotemporal Lobar Degeneration: Characterizing Semantic Binding and Abstracted Meaning Abilities

2009 ◽  
Vol 19 (4) ◽  
pp. 117-125 ◽  
Author(s):  
Raksha Anand ◽  
John Hart ◽  
Patricia S. Moore ◽  
Sandra B. Chapman
Keyword(s):  
Frontotemporal Lobar Degeneration ◽  
Assessment Tools ◽  
Progressive Decline ◽  
Cognitively Normal ◽  
Nonfluent Aphasia ◽  
Traditional Assessment ◽  
Language Measures ◽  
Semantic Object ◽  
Semantic Problem ◽  
Progressive Nonfluent Aphasia

Abstract Purpose: Frontotemporal lobar degeneration (FTLD) encompasses a group of neurodegenerative disorders characterized by gradual and progressive decline in behavior and/or language. Identifying the subtypes of FTLD can be challenging with traditional assessment tools. Growing empirical evidence suggests that language measures might be useful in differentiating FTLD subtypes. Method: In this paper, we examined the performance of five individuals with FTLD (two with frontotemporal dementia, two with semantic dementia, and one with progressive nonfluent aphasia) and 10 cognitively normal older adults on measures of semantic binding (Semantic Object Retrieval Test and semantic problem solving) and abstracted meaning (generation of interpretive statement and proverb interpretation). Results and Conclusion: A differential profile of impairment was observed in the three FTLD subtypes on these four measures. Further examination of these measures in larger groups will establish their clinical utility in differentiating the FTLD subtypes.

Dominant negative CaSR mutants: Biochemical function, inheritance and clinical phenotypes

2015 ◽  
Vol 122 (03) ◽  
Author(s):  
S Letz ◽  
M Gllaudo ◽  
M Quinkler ◽  
U Bogner ◽  
C Haag ◽  
...  
Keyword(s):  
Dominant Negative ◽  
Clinical Phenotypes ◽  
Biochemical Function

Vestibular Schwannoma Clinical Phenotypes Are Associated with Differential Methylation Patterns

2020 ◽  
Author(s):  
Avital Perry ◽  
Christopher S. Graffeo ◽  
Lucas P. Carlstrom ◽  
Amanda Munoz Casabella ◽  
Matthew L. Carlson ◽  
...  
Keyword(s):  
Vestibular Schwannoma ◽  
Differential Methylation ◽  
Clinical Phenotypes ◽  
Methylation Patterns

Frequency of common genetic forms of frontotemporal dementia in a Russian cohort of patients

2020 ◽  
pp. 30-32
Author(s):  
Ю.А. Шпилюкова ◽  
Е.Ю. Федотова ◽  
Н.Ю. Абрамычева ◽  
С.Н. Иллариошкин
Keyword(s):  
Frontotemporal Dementia ◽  
Clinical Phenotypes ◽  
Mapt Gene ◽  
First Time

Впервые в российской популяции на когорте пациентов с клиническим диагнозом ЛВД исследована частота встречаемости мутаций в наиболее частых генах, ассоциированных с данным заболеванием. Наибольшая часто мутирующими являются гены C9orf72 и GRN. Реже всего встречаются мутации в гене MAPT, что возможно связано с неравномерным представительством клинических фенотипов в нашей выборке. For the first time in the Russian cohort of FTD patients the frequency of mutations in the most common genes associated with this disease was studied. The most frequently mutating are the genes C9orf72 and GRN. Mutations in the MAPT gene are least likely to occur, which is probably due to the uneven representation of clinical phenotypes in our sample.

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