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Spastin Phenotype and Function

Arch Neurol. 2004;61:830-833.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

The hereditary spastic paraplegias (HSPs) are rapidly being understood as a large group of genetically heterogeneous disorders in which the predominant clinical feature is gait disturbance due to lower-extremity spasticity and weakness. The degree of severity and manner of progression are often quite variable between different genetic types of HSP, between different families with the same genetic type of HSP, and between affected subjects from the same family who share exactly the same HSP gene mutation. Presently, genetic loci (designated SPG1 through SPG23 in order of their discovery) have been identified for 10 autosomal dominant, 8 autosomal recessive, and 3 linked types of HSP (designations SPG18 and SPG22 have been reserved for as yet unpublished loci).^1-2 Ten HSP genes have been discovered.^{1, 3}

The SPG4 HSP is the single most common cause of dominantly inherited HSP, representing approximately 40% of such cases. Hazan et al⁴ discovered that mutations in a novel . . . [Full Text of this Article]

EXTENDING THE SPG4 PHENOTYPE


EMERGING INSIGHTS INTO SPASTIN FUNCTION

SPASTIN APPEARS TO INTERACT WITH MICROTUBULES

EFFECT ON MITOCHONDRIA AND OTHER ORGANELLE DISTRIBUTION

TOP 10 SPG4/SPASTIN CONCLUSIONS
John K. Fink, MD
5214 Cancer Center Geriatrics Center Bldg, Box 0940
1500 E Medical Center Dr
Ann Arbor, MI 48109-0940
(e-mail: jkfink@umich.edu)

Shirley Rainier, PhD
Ann Arbor

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