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Article

Complicated hereditary spastic paraparesis with cerebral white matter lesions.

American journal of medical genetics - 1 Jun 1990

Gutmann D H, Fischbeck K H, Kamholz J

Abstract excerpt

A family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper-reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic...

Topics

Adolescent
Adult
Brain Diseases
Female
Genes, Recessive
Genetic Linkage
Genetic Variation
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Paraparesis, Tropical Spastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Syndrome

X Chromosome

Source

Identifiers

PMID: 2368815
DOI: 10.1002/ajmg.1320360222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2368815-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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