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SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)

Known as: SPG28, Spastic Paraplegia 28, Autosomal Recessive 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2016
02420052016

Related topics

Related topics

6 relations
Abnormal pyramidal signsAutosomal recessive inheritanceLower limb muscle weaknessScoliosis, unspecified
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Broader (1)

Paraplegia

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Autosomal recessive inheritance
Scoliosis, unspecified
Paraplegia
Abnormal pyramidal signs
Talipes cavus

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast.
The DDHD domain-containing proteins, which belong to the intracellular phospholipase A1 (iPLA1) family, have been predicted to be… (More)
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2016
2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.
Mutations in DDHD1 cause the SPG28 subtype of hereditary spastic paraplegia (HSP). Recent studies suggested that mitochondrial… (More)
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2016
2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54… (More)
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2016
2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis
Background: Juvenile amyotrophic lateral sclerosis (jALS) is a rare form of ALS with an onset age of less than 25 years and is… (More)
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2014
2014
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype… (More)
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2007
2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families
Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly… (More)
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2007
2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Thirty-three different loci for hereditary spastic paraplegias (HSP) have been mapped, and 15 responsible genes have been… (More)
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2005
2005
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the… (More)
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