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Spastic paraplegia 15, autosomal recessive

Known as: KJELLIN SYNDROME, SPG15, SPASTIC PARAPLEGIA AND RETINAL DEGENERATION 
 
National Institutes of Health

Related topics

Related topics

20 relations
AtaxiaAutosomal recessive inheritanceAxonal neuropathyClonus
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Broader (2)

Spastic Paraplegia, HereditaryZFYVE26 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Monocyte and microglial activation in patients with mood-stabilized bipolar disorder.
BACKGROUND Bipolar disorder is associated with medical comorbidities that have been linked to systemic inflammatory mechanisms… Expand
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Highly Cited
2014
Highly Cited
2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and… Expand
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2014
2014
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
Objective Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with… Expand
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2014
2014
Abnormality in serum levels of mature brain-derived neurotrophic factor (BDNF) and its precursor proBDNF in mood-stabilized patients with bipolar disorder: a study of two independent cohorts.
BACKGROUND Early detection and diagnosis of bipolar disorder can be difficult. Tools are needed to help clinicians detect bipolar… Expand
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2013
2013
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the… Expand
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Review
2012
Review
2012
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are… Expand
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2010
2010
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum
Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) and mental impairment is a frequent subtype of complicated… Expand
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2009
2009
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum
Objective:Hereditary spastic paraplegias (HSPs) are very heterogeneous inherited neurodegenerative disorders. Our group recently… Expand
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2009
2009
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes… Expand
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Highly Cited
2008
Highly Cited
2008
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and… Expand
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