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A large Calabrian kindred segregating frontotemporal dementia.

S A M Curcio¹, T Kawarai, A D Paterson

¹Centro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy.

Journal of Neurology

|July 26, 2002

Summary

This study investigated a large family with frontotemporal dementia (FTD), revealing autosomal dominant inheritance and consistent clinical features. Early signs included personality changes and language difficulties, with no MAPT gene mutations found.

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Area of Science:

Neuroscience
Genetics
Neurology

Background:

Frontotemporal dementia (FTD) presents diagnostic challenges due to late-onset cognitive symptoms and significant heterogeneity.
Understanding the genetic and clinical variability of FTD is crucial for early diagnosis and management.

Purpose of the Study:

To investigate the genetic basis and clinical presentation of frontotemporal dementia (FTD) in a large, multigenerational pedigree.
To identify potential genetic linkages and characterize the specific phenotypic features within this FTD family.

Main Methods:

Genealogical reconstruction of an 11-generation kindred with 34 identified affected individuals.
Clinical examination of 11 affected individuals meeting Lund-Manchester criteria for FTD.
Genetic linkage analysis excluding chromosomes 3 and 9, with indeterminate results for chromosome 17; MAPT gene mutation screening.

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Main Results:

Autosomal dominant transmission of FTD was confirmed within the pedigree.
Consistent clinical phenotype observed, characterized by early personality changes, lack of insight, and early loss of fluency.
Neuropsychological deficits (memory, orientation, praxis) and motor symptoms (akinesia, late rigidity, late myoclonus) evolved late; hyperorality was noted.
No mutations in the MAPT gene were detected in affected family members.

Conclusions:

This FTD kindred exhibits a distinct autosomal dominant inheritance pattern with a uniform clinical presentation.
The genetic cause of FTD in this family is not linked to chromosomes 3 or 9 and does not involve MAPT gene mutations, suggesting other genetic factors.
Early identification of FTD is possible through recognition of specific behavioral and language changes preceding significant cognitive decline.