Familial motor neuron disease | RDL Research Database

Abstract

Based on a clinical, pathologic, and genetic study of 14 families, at least three types of familial motor neuron disease can be distinguished, all apparently of autosomal dominant transmission. The first is characterized by rapid, progressive loss of motor function with predominantly lower motor neuron manifestations and a course lasting less than 5 years. Pathologic changes are limited to the anterior horn cells and pyramidal tracts. The second type is clinically identical to the first, but at autopsy additional changes are found in the posterior columns, Clarke's column, and spinocerebellar tracts. The third type is characterized by a much longer survival usually beyond 10 and after more than 20 years in affected family members but is otherwise similar to the second type.

Keywords

Motor neuronDiseaseNeuroscienceMedicinePhysical medicine and rehabilitationPsychologyPathology

Affiliated Institutions

National Institutes of Health US

Related Publications

Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management

Rup Tandan , Walter G. Bradley

Abstract Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease of the motor system in adults that occurs in sporadic, familial, and Western Pacific forms. In...

1985 Annals of Neurology 369 citations

Familial adult motor neuron disease: amyotrophic lateralsclerosis

Daan Mulder , L. T. Kurland , Kenneth P. Offord +1 more

We analyzed the medical records of 103 patients with familial adult motor neuron disease (MND). In the 72 families, 329 members were known to be affected. Observations were comp...

1986 Neurology 399 citations

Ubiquitin Immunohistochemistry Suggests Classic Motor Neuron Disease, Motor Neuron Disease With Dementia, and Frontotemporal Dementia of the Motor Neuron Disease Type Represent a Clinicopathologic Spectrum

Ian R. Mackenzie , Howard Feldman

One of the characteristic pathologic changes in classic motor neuron disease (MND) is the presence of ubiquitin-immunoreactive (ub-ir) inclusions in the cytoplasm of lower motor...

2005 Journal of Neuropathology & Experimen... 159 citations

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Matt Baker , Ian R. Mackenzie , Stuart Pickering‐Brown +24 more

Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. A large proportion of FTD patients (35-50%) have a family history ...

2006 Nature 2058 citations

Amyloid β Protein Precursor Gene and Hereditary Cerebral Hemorrhage with Amyloidosis (Dutch)

Christine Van Broeckhoven , J. Haan , Egbert Bakker +5 more

Human hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D), an autosomal dominant form of cerebral amyloid angiopathy (CAA), is characterized by extensive...

1990 Science 475 citations

Publication Info

Year: 1976
Type: article
Volume: 26
Issue: 5
Pages: 460-460
Citations: 98
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Familial motor neuron disease

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

OpenAlex

Cite This

APA Style

                            
                                    William A. Horton, 
                                
                                    Roswell Eldridge, 
                                
                                    Jacob A. Brody
                                
                            (1976). 
                            Familial motor neuron disease. 
                            Neurology
                            , 26
                            (5)
                            , 460-460.
                            https://doi.org/10.1212/wnl.26.5.460

Identifiers

DOI: 10.1212/wnl.26.5.460