Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families.

Abstract excerpt

This study aimed to describe the clinical phenotype of a large collection of families with autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the relative frequency of each of the three known ADPHSP genes within this population, to assess locus-phenotype correlation in ADPHSP and to ascertain whether there are clinical subgroups within genetically defined populations of ADPHSP families. We...

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