Autopsy-proven progressive supranuclear palsy in two siblings

James W. Tetrud, Lawrence Golbe, Lysia S. Forno, Peter M. Farmer

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.

Original languageEnglish (US)
Pages (from-to)931-934
Number of pages4
JournalNeurology
Volume46
Issue number4
DOIs
StatePublished - Jan 1 1996

Fingerprint

Progressive Supranuclear Palsy
Siblings
Autopsy
Parkinsonian Disorders
Pseudobulbar Palsy
Mothers
Essential Tremor
Lewy Bodies
Subthalamic Nucleus
Dysarthria
Hypokinesia
Neurofibrillary Tangles
Globus Pallidus
Dystonia
Urinary Incontinence
Tremor
Genetic Predisposition to Disease
Deglutition Disorders
Fathers
Neurodegenerative Diseases

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Tetrud, J. W., Golbe, L., Forno, L. S., & Farmer, P. M. (1996). Autopsy-proven progressive supranuclear palsy in two siblings. Neurology, 46(4), 931-934. https://doi.org/10.1212/WNL.46.4.931
Tetrud, James W. ; Golbe, Lawrence ; Forno, Lysia S. ; Farmer, Peter M. / Autopsy-proven progressive supranuclear palsy in two siblings. In: Neurology. 1996 ; Vol. 46, No. 4. pp. 931-934.
@article{39ba0fa0d50b44d8a6a85529b524563c,
title = "Autopsy-proven progressive supranuclear palsy in two siblings",
abstract = "Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.",
author = "Tetrud, {James W.} and Lawrence Golbe and Forno, {Lysia S.} and Farmer, {Peter M.}",
year = "1996",
month = "1",
day = "1",
doi = "10.1212/WNL.46.4.931",
language = "English (US)",
volume = "46",
pages = "931--934",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

Tetrud, JW, Golbe, L, Forno, LS & Farmer, PM 1996, 'Autopsy-proven progressive supranuclear palsy in two siblings', Neurology, vol. 46, no. 4, pp. 931-934. https://doi.org/10.1212/WNL.46.4.931

Autopsy-proven progressive supranuclear palsy in two siblings. / Tetrud, James W.; Golbe, Lawrence; Forno, Lysia S.; Farmer, Peter M.

In: Neurology, Vol. 46, No. 4, 01.01.1996, p. 931-934.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Autopsy-proven progressive supranuclear palsy in two siblings

AU - Tetrud, James W.

AU - Golbe, Lawrence

AU - Forno, Lysia S.

AU - Farmer, Peter M.

PY - 1996/1/1

Y1 - 1996/1/1

N2 - Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.

AB - Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is generally considered to be nonfamilial. We report a brother and sister with clinical and pathologic findings characteristic of PSP. Both developed parkinsonism in the eighth decade of life and within 5 years exhibited severe postural instability, bradykinesia, rigidity, dystonia, dysarthria, dysphagia, urinary incontinence, pseudobulbar palsy, and supranuclear oculomotor dysfunction but no tremor. Neither responded to levodopa and/or carbidopa. Their mother and, possibly, maternal grandfather reportedly suffered from a parkinsonian syndrome. Essential tremor occurred in the siblings' father and in two of the brother's three children. Autopsy in the brother at age 81 years and sister at age 79 years revealed changes typical of PSP with atrophy and neurofibrillary tangles in the globus pallidus, subthalamic nucleus, and rostral tegmental brainstem. No Lewy bodies were present. These cases are the first pair of relatives reported with autopsy confirmation of PSP in both and raise the question of genetic predisposition to PSP.

UR - http://www.scopus.com/inward/record.url?scp=0029863598&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029863598&partnerID=8YFLogxK

U2 - 10.1212/WNL.46.4.931

DO - 10.1212/WNL.46.4.931

M3 - Article

VL - 46

SP - 931

EP - 934

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 4

ER -

Tetrud JW, Golbe L, Forno LS, Farmer PM. Autopsy-proven progressive supranuclear palsy in two siblings. Neurology. 1996 Jan 1;46(4):931-934. https://doi.org/10.1212/WNL.46.4.931