Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.
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.
Cheshire
William P
WP
Department of Neurology, Mayo Clinic, 4500 San Pablo Rd., Jacksonville, FL 32224, USA. cheshire@mayo.edu
Tsuboi
Yoshio
Y
Wszolek
Zbigniew K
ZK
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001341:Autonomic Nervous System / Q000503:physiopathology*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003704:Dementia / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005917:Globus Pallidus / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics / Q000503:physiopathology; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics / Q000503:physiopathology*; D011149:Pons / Q000503:physiopathology; D012720:Severity of Illness Index; D013378:Substantia Nigra / Q000503:physiopathology; D013577:Syndrome; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins