Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17

• Published in: Autonomic neuroscience Vol. 102; no. 1; pp. 71 - 77
• Main Authors: Cheshire, William P, Tsuboi, Yoshio, Wszolek, Zbigniew K
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier B.V 29.11.2002; Elsevier
• Subjects: Adult; Amino Acid Substitution - genetics; Autonomic dysfunction; Autonomic Nervous System - physiopathology; Biological and medical sciences; Chromosomes, Human, Pair 17 - genetics; Dementia - genetics; Dementia - physiopathology; Exocrine pancreas; Female; Frontotemporal dementia; Fundamental and applied biological sciences. Psychology; Globus Pallidus - physiopathology; Heredodegenerative Disorders, Nervous System - genetics; Heredodegenerative Disorders, Nervous System - physiopathology; Humans; Hypohidrosis - genetics; Hypohidrosis - physiopathology; Linear Models; Male; Middle Aged; Mutation - genetics; N279K tau mutation; Pallidopontonigral degeneration; Parkinsonian Disorders - genetics; Parkinsonian Disorders - physiopathology; Parkinsonism; Pons - physiopathology; Severity of Illness Index; Substantia Nigra - physiopathology; Syndrome; tau Proteins - genetics; Tauopathies; Vertebrates: digestive system; Tauopathies; Parkinsonism; Autonomic dysfunction; Pallidopontonigral degeneration; Frontotemporal dementia; N279K tau mutation; Case study; Human; Tau protein; Central nervous system; Diseases of the autonomic nervous system; Basal ganglion; Degeneration; Mutation; Pallidum; Brain (vertebrata); Dementia
• ISSN: 1566-0702; 1872-7484
• DOI: 10.1016/S1566-0702(02)00205-9

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.