RESEARCH: 2 HSP abstracts

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Narrowing of the critical region in autosomal

recessive spastic paraplegia linked to the SPG5 locus.

Muglia M, Criscuolo C, Magariello A, De Michele G,

Scarano V, D'Adamo P, Ambrosio G, e A,

Patitucci A, Mazzei R, Conforti F, Sprovieri T,

te L, Epifanio A, La Spina P, Valentino P,

Gasparini P, Filla A, Quattrone A.

Institute of Neurological Sciences, National Research

Council, Mangone-Cosenza.

Hereditary spastic paraplegias are neurodegenerative

disorders characterized clinically by progressive

spasticity of the lower limbs; they are inherited as

autosomal dominant, autosomal recessive and X-linked

traits. We have analyzed four autosomal recessive HSP

families gathered from southern Italy. We performed

genetic analysis using microsatellite markers

associated with SPG5, SPG7, SPG11 and SPG14. Positive

lod scores were obtained with markers located on

chromosome 8. The lod scores for the four combined

families were significantly higher than 3 for D8S509,

D8S1102, D8S1723 and D8S260 with a maximum two-point

lod score at Theta = 0 of 3.99 for the marker D8S260.

In one of the examined families, the haplotype

analysis suggests two key recombination events

demonstrating that the gene is localized in the 11 cM

region flanked by markers D8S285 and D8S544, refining

the ARHSP region by approximately 22 cm. We also

analyzed five candidate genes localized within the HSP

region: TOX, syndecan-binding-protein (SDCBP), RAB2,

CA8 and PENK, but we did not find disease causing

mutations.

SOURCE: J Peripher Nerv Syst. 2004 Jun;9(2):124.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

5104764 & dopt=Abstract

Genotype-phenotype correlation in some autosomal

recessive hereditary spastic paraplegias.

Manganelli F, Criscuolo C, Scarano V, Perretti A, De

Michele G, Filla A, Santoro L.

Department of Neurological Sciences, University of

Naples " Federico II " .

Hereditary spastic paraplegias (HSPs) are a group of

clinically and genetically inherited disorders.

Spastic paraparesis (SP), the main clinical feature of

all HSPs can occur in relative isolation in the " pure "

form or in combination with other neurological

deficits in " complicated " forms. Autosomal dominant,

autosomal recessive (AR) and X-linked recessive

inheritance pattern of HSPs have been reported. At

present, among AR-HSPs, three genes, paraplegin

(SPG7), spartin (SPG20 - Troyer syndrome) and

maspardin (SPG21) have been identified and six genetic

loci have been mapped (SPG5, SPG11, SPG14, SPG15,

SPG24, SPG25). We have evaluated 11 patients belonging

to six AR-HSP families genetically identified as SPG5,

SPG7, SPG11 and SPG15. In all patients

electromyography, nerve conduction velocity studies,

visual (VEPs), somatosensory (SSEPs), brainstem

auditory (BAEPs) and magnetic motor (MMEPs) evoked

potentials were performed. All 4 SPG5 patients,

affected by a pure form of SP, showed abnormalities of

both MMEPs and SSEPs, and two of them also VEP

alterations. In the two SPG7 patients with complicated

SP, MMEP abnormalities only were discovered. Among the

three SPG11 patients affected by SP, complicated by

mental retardation and thin corpus callosum,

electrophysiological studies revealed MMEP

abnormalities and signs of motor neuropathy in one of

them. Finally, in the SPG15 family, presenting with SP

associated with mental retardation and neurosensorial

deafness, MMEP and BAEP alterations were found.

SOURCE: J Peripher Nerv Syst. 2004 Jun;9(2):112.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

5104725 & dopt=Abstract