Clinical Diagnosis Of Familial Atypical Parkinsonian Disorders

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Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17

The term frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) was defined in 1996 during the International Consensus Conference in Ann Arbor, Michigan (3). At the time of this meeting, only 13 families with syndromes linked to the chromosome 17q21-22 locus were known (4-12). Currently, over 80 families with FTDP-17 are known (13). Data indicate that some of these kindreds may share a common founder (14,15). However, distribution is worldwide, with families described in North America, Europe, Asia, and Australia (4-14,16).

Molecular genetic studies have identified 31 unique tau gene mutations associated with FTDP-17 (8,10-12,14,16). The three most prevalent are P301L, exon 10 5' +16, and N279K. These mutations account for about 60% of known cases of FTDP-17 (16). Thus, the concept of FTDP-17 has evolved

From: Current Clinical Neurology: Atypical Parkinsonian Disorders Edited by: I. Litvan © Humana Press Inc., Totowa, NJ

Table 1

Familial Parkinsonism Associated With Known Gene Mutations or Loci




Range of Age at Onset, yr (mean)


Response to Levodopa


Autosomal dominant

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