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Spastic Paraplegia, Hereditary

Known as: HMSN V (Hereditary Motor and Sensory Neuropathy Type V), Type V, HMSN, Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy 
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal… 
National Institutes of Health

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3-Methylglutaconic aciduria type 3ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)Ataxia, Spastic, 3, Autosomal RecessiveAutosomal Recessive Hereditary Spastic Paraplegia
ATL1 geneFootdropHammer ToeIn Blood

Broader (1)

Spinocerebellar Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
A locus for hereditary hypotrichosis localized to human chromosome 18q21.1
Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous… 
1997
1997
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
Abstract Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or… 
1996
1996
Intraspinal epidural sarcoidosis: case report.
OBJECTIVE AND IMPORTANCE A rare case of lumbar intraspinal epidural sarcoidosis is identified. The rarity of this condition and… 
1987
1987
Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome.
Necropsy material from the eye of a 23-year-old male known to have suffered from the Sjögren-Larsson syndrome, characterised by… 
1986
1986
Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive… 
1979
1979
Hereditary sensory neuropathy with spastic paraplegia.
Five cases of spastic paraplegia with a progressive symmetrical sensory neuropathy producing ulceration and osteomyelitis of the… 
Review
1978
Review
1978
[Crossed aphasia in a right-handed patient: a report on one case (author's transl)].
The authors report on a 37 year old right-handed patient with a right rolando-parietal infarct which was manifest clinically by… 
1976
1976
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally… 
1976
1976
Spectrographic comparison of two types of spastic dysphonia.
A spectrographic comparison of the voices of two patients with spastic dysphonia demonstrated differences in vocal… 
1958
1958
The relationship of Little's disease to premature birth.
Introduction Little's disease is the term applied to morbid states established in infancy or in prenatal time and characterized…