TY - JOUR
T1 - Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17
AU - Cheshire, William P.
AU - Tsuboi, Yoshio
AU - Wszolek, Zbigniew K.
N1 - Funding Information:
We would like to acknowledge our gratitude to all family members who participated in this research and to Ms. Audrey Strongosky for coordination of the project. This study was supported by a grant from Mayo Foundation (#1688-99).
PY - 2002/11/29
Y1 - 2002/11/29
N2 - Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. Affected subjects reported symptoms including hyperhidrosis, sialorrhea, urinary frequency or incontinence, thermal intolerance, male sexual dysfunction, lacrimation, and dryness of the eyes or mouth. None had orthostatic hypotension. Autonomic testing revealed mild-to-moderate abnormalities in all five affected subjects and minor abnormalities in the three oldest, asymptomatic, at-risk subjects. Findings in affected subjects consisted of preganglionic sudomotor dysfunction in all five, impaired cardiovagal function in three, and reduced or absent pupillary near responses in four. Tests of adrenergic function were normal in all subjects. The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network.
AB - Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. Affected subjects reported symptoms including hyperhidrosis, sialorrhea, urinary frequency or incontinence, thermal intolerance, male sexual dysfunction, lacrimation, and dryness of the eyes or mouth. None had orthostatic hypotension. Autonomic testing revealed mild-to-moderate abnormalities in all five affected subjects and minor abnormalities in the three oldest, asymptomatic, at-risk subjects. Findings in affected subjects consisted of preganglionic sudomotor dysfunction in all five, impaired cardiovagal function in three, and reduced or absent pupillary near responses in four. Tests of adrenergic function were normal in all subjects. The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network.
KW - Autonomic dysfunction
KW - Frontotemporal dementia
KW - N279K tau mutation
KW - Pallidopontonigral degeneration
KW - Parkinsonism
KW - Tauopathies
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U2 - 10.1016/S1566-0702(02)00205-9
DO - 10.1016/S1566-0702(02)00205-9
M3 - Article
C2 - 12492138
AN - SCOPUS:0037195492
SN - 1566-0702
VL - 102
SP - 71
EP - 77
JO - Autonomic Neuroscience: Basic and Clinical
JF - Autonomic Neuroscience: Basic and Clinical
IS - 1-2
ER -