BACKGROUND: Many genes/loci associated with Parkinsonian disorders have been identified. However, the genetic causes for a number of familial forms of Parkinsonian disorders remain to be elucidated. OBJECTIVE: It was the aim of this paper to review the familial progressive supranuclear palsy (PSP) cases without any known gene mutations published in the English literature. METHODS: We searched the PubMed database for reports of familial PSP cases without known mutations. RESULTS: We found 19 PSP families. The mean age at onset was approximately 60 years, and the mean disease duration was about 8 years. Parkinsonism and ophthalmoplegia were most frequently reported, and a vast majority of patients manifested with these two symptoms. Other symptoms such as falls, postural instability and pyramidal signs were also common. A small subset of patients transiently responded to L-dopa therapy. CONCLUSION: There is an increasing number of reported familial PSP. A recently performed genome-wide association study indicated genetic factors for this condition. Furthermore, clinical, pathological and genetic investigations will open new avenues to the discovery of causative genes and new therapeutics for PSP.
BACKGROUND: Many genes/loci associated with Parkinsonian disorders have been identified. However, the genetic causes for a number of familial forms of Parkinsonian disorders remain to be elucidated. OBJECTIVE: It was the aim of this paper to review the familial progressive supranuclear palsy (PSP) cases without any known gene mutations published in the English literature. METHODS: We searched the PubMed database for reports of familial PSP cases without known mutations. RESULTS: We found 19 PSP families. The mean age at onset was approximately 60 years, and the mean disease duration was about 8 years. Parkinsonism and ophthalmoplegia were most frequently reported, and a vast majority of patients manifested with these two symptoms. Other symptoms such as falls, postural instability and pyramidal signs were also common. A small subset of patients transiently responded to L-dopa therapy. CONCLUSION: There is an increasing number of reported familial PSP. A recently performed genome-wide association study indicated genetic factors for this condition. Furthermore, clinical, pathological and genetic investigations will open new avenues to the discovery of causative genes and new therapeutics for PSP.
Authors: Leonie J M Vergouw; Shamiram Melhem; Laura Donker Kaat; Wang Z Chiu; Demy J S Kuipers; Guido Breedveld; Agnita J W Boon; Li-San Wang; Adam C Naj; Elizabeth Mlynarksi; Laura Cantwell; Marialuisa Quadri; Owen A Ross; Dennis W Dickson; Gerard D Schellenberg; John C van Swieten; Vincenzo Bonifati; Frank Jan de Jong Journal: Neurobiol Aging Date: 2020-04-30 Impact factor: 4.673
Authors: Marina P Sánchez; Ana M García-Cabrero; Gentzane Sánchez-Elexpuru; Daniel F Burgos; José M Serratosa Journal: Int J Mol Sci Date: 2018-04-05 Impact factor: 5.923