ORIGINAL COMMUNICATION

Journal of Neurology

, Volume 249, Issue 7, pp 911-922

A large Calabrian kindred segregating frontotemporal dementia

  • S. A. M. CurcioAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it
  • , T. KawaraiAffiliated withCentre for Research on Neurodegenerative Diseases, University of Toronto, 6 Queen's Park Crescent, Toronto, Ontario, Canada, M5S 1A8
  • , A. D. PatersonAffiliated withProgram in Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario Canada M5G 1X8
  • , R. G. MalettaAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it
  • , G. PuccioAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it
  • , M. PerriAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it
  • , M. Di NataleAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it
  • , S. PalermoAffiliated withDipartimento di Medicina Nucleare Azienda Ospedaliere Pugliese, Via Pio X, 88100 Catanzaro, Italy
  • , J.-F. FoncinAffiliated withLaboratoire de Neurohistologie, Ecole Pratique des Hautes Etudes, Rue General Leclerc 47, 77170 Brie Comte Robert – Paris, France
    • , P. H. St. George HyslopAffiliated withCentre for Research on Neurodegenerative Diseases, University of Toronto, 6 Queen's Park Crescent, Toronto, Ontario, Canada, M5S 1A8
    • , A. C. BruniAffiliated withCentro Regionale di Neurogenetica, ASL 6 Viale A. Perugini, 88046 Lamezia Terme (CZ) Italy. Tel.: +39-9 68/46 24 13, Fax: +39-9 68/46 35 45, E-Mail: bruni@arn.it

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Abstract.

Frontotemporal dementia (FTD) displays significant neuropathological and genetic heterogeneity among and within affected families. An early diagnosis is often difficult because cognitive symptoms are manifest only at a late stage of the disease. We have been studying a large pedigree segregating frontotemporal dementia (FTD) to which belong 34 identified affected persons, 11 of whom were personally examined. The kindred has been genealogically reconstructed; all FTD patients have been linked to the same ancestors who lived in the early 18th century (11 generations before the present one). Autosomal dominant transmission was evident. Clinical features were uniform within the kindred and met the Lund-Manchester criteria. Personality changes with absence of insight, lack of empathy and of social awareness manifested up to 5 years before medical advice was sought. Loss of fluency was the earliest neuropsychological sign, in the absence of memory, orientation and praxis deficits, which evolved late, together with hyperorality. Akinesia was observed early, rigidity appeared late, tremor was absent. Two patients showed myoclonus late in their evolution. No ALS signs were observed in this kindred. Mutations of the MAPt gene, coding for the Tau protein, were not detected in affected family members. Linkage studies excluded chromosomes 3 and 9 and gave indeterminate results that were model dependent for chromosome 17.

Key words frontotemporal dementia genealogical methods MAPt gene linkage study