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Fig. 1 | BMC Neurology

Fig. 1

From: A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

Fig. 1

A Pedigree of the present family. The proband is indicated (arrow). Squares indicate men, circles women, shaded (black) symbols individuals with symptoms of complicated HSP, and unshaded ones individuals without any symptoms. Individuals evaluated both clinically and genetically are denoted by asterisks. B Sanger sequencing revealed the c.1496G > A mutation in SPAST was in a heterozygous state in the proband. The c.1496 nucleotide is shaded yellow. C The c.1496G > A mutation in SPAST was not detected in the proband’s father. The c.1496 nucleotide is shaded yellow. D The c.1496G > A mutation in SPAST was not detected in the proband’s mother. The c.1496 nucleotide is shaded yellow. E The c.1496G > A mutation in SPAST was not detected in the proband’s younger sister. The c.1496 nucleotide is shaded yellow

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BMC Neurology

ISSN: 1471-2377

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