Powered by OpenAIRE graph
Found an issue? Give us feedback
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ Hong Kong Medical Jo...arrow_drop_down
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
addClaim

Hereditary spastic paraplegias.

Authors: K K, Lau; C K, Ching; Chloe M, Mak; Y W, Chan;

Hereditary spastic paraplegias.

Abstract

We report a case of hereditary spastic paraplegia. This 38-year-old Chinese man has had lower limb weakness and spasticity for 10 years. He has normal cognition, no sensory deficits, ataxia or cataracts. There is a strong family history of spastic paraplegia. His paternal grandmother, great uncle, father, and elder brother all had weakness and spasticity. A genetic analysis showed that our patient was heterozygous for the mutation p.P361L in SPG4. He was diagnosed with spastic paraplegia type 4, autosomal dominant (SPG4, MIM#182601). About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. To date, 38 hereditary spastic paraplegia loci and 16 hereditary spastic paraplegia-related genes have been identified. Other features include sphincter disturbance and dorsal column disturbance. Our patient may be the first case of SPG4 confirmed by genetic analysis locally. We hope to raise clinicians' awareness of this disease and its possible molecular diagnosis.

Related Organizations
Keywords

Adenosine Triphosphatases, Adult, Male, Spastin, Spastic Paraplegia, Hereditary, Humans, Pedigree

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
gold