Coriell Institute
Italian Alzheimer Disease Family

[List of Fibroblasts in the Collection]
[List of Lymphoblasts in the Collection ]

Pedigrees
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The cultures in this collection are derived from selected members of an extensive pedigree with familial Alzheimer disease. Although the American branch of this family was reported in 1963 by Feldman et al. [Neurology 13: 811-823], the relationship to the much larger Italian branch was established by Foncin et al. [Rev. Neurol. 141: 194-202 (1985)]. Ancestors have been traced through seven generations by examination of civil and church records as well as personal contact whenever possible. The inheritance pattern in this family is most compatible with autosomal dominant transmission.

Research on this family has been conducted in Italy and France by Drs. J.-F. Foncin and A.C. Bruni; the American branch has been investigated by Linda Nee, MSW [National Institute of Neurological Diseases and Stroke (NINDS)] and Dr. R. Polinsky (formerly with the NINDS). The primary efforts have focused on genetic linkage studies although a longitudinal study of affected and at-risk family members of the American branch is in progress. This family is one of the four pedigrees used by St. George-Hyslop et al. to identify a region of chromosome 21 that is linked to Alzheimer disease [Science 235: 885-890 (1987)]. More recently identified members and branches of the family have been incorporated into the accompanying pedigree. At this time, fifty-one members have been diagnosed as Alzheimer disease. Histological confirmation of the diagnosis has been completed on six cases. The average age of onset in this family is approximately 40 years. Field expeditions have been conducted for the purposes of performing neurological examinations and collecting specimens for establishing the fibroblast and lymphoblast collections. Specimens have been collected with genetic linkage studies in mind with the highest priority for affected individuals, followed by spouse and children of a deceased affected, first degree at-risk family member, escapee and spouse. Additional cultures may become available in the future.

Further information on the status of clinical and linkage studies in this family can be obtained by contacting either:

Linda E. Nee, MSW
Social Science Analyst, Family Studies Unit
NIH/NINDS
Bldg. 10, Rm. 5N226
9000 Rockville Pike
Bethesda, MD 20892
301-496-3559

or

Dr. J.-F. Foncin
École Pratique des Hautes Études
Laboratoire de Neurohistologie
Division Montyon Hôpitale de la Salpetrière
47 Boulevard de l'Hôpitale
75651 PARIS CEDEX 13, FRANCE

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