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SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41

SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT; SPG41

Cytogenetic location: 11p14.1-p11.2 Genomic coordinates (GRCh38): 11:27,200,000-48,800,000▼ Clinical FeaturesZhao et al. (2008) reported a 4-generation Chine...

Cytogenetic location: 11p14.1-p11.2 Genomic coordinates (GRCh38): 11:27,200,000-48,800,000

▼ Clinical Features
Zhao et al. (2008) reported a 4-generation Chinese family in which 7 individuals had pure spastic paraplegia inherited in an autosomal dominant pattern. The average age at onset was 16.6 years, and all showed proximal muscle weakness of the lower extremities with hyperreflexia and spastic gait. The upper extremities showed normal tone with mild weakness of the small hand muscles. Four patients reported urinary urgency. There were no other neurologic signs, and cognition was normal.

▼ Mapping
By genomewide linkage analysis of a Chinese family with autosomal dominant pure SPG, Zhao et al. (2008) identified an 18.88-cM region between markers D11S1324 and D11S1993 on chromosome 11p14.1-p11.2 (maximum 2-point lod score of 2.36 with several markers).

Tags: 11p11.2, 11p14.1