NIPA1 mutation analysis

Supplement table 1:

SPG6 families with mutations in the NIPA1 gene on chromosome 15 reported in the literature and in the present study.

Number of analyzed families / Positive / Phenotype / Age of onset, in years (range) / Origin / Mutation
Rainier et al.
2003 / 63 / 2 / Pure / Late teen-age years / Ireland, Iraq / T45R
Reed et al.
2005 / 1 / 1 / Pure / 16.5
(9 – 23) / UK / G106R
(c.316G>A)
Chen et al.
2005 / 16 / 2 / Pure / 13 - 40 / China / G106R
(c.316G>A
c.316G>C)
Munhoz et al.
2006 / 1 / 1 / Pure / 24
(20 – 27) / Brazil (Portugal) / G106R
(c.316G>A)
Kaneko et al.
2006 / 1 / 1 / Pure / Early teen-age years / Japan / A100T
(c.298 G>A)
Klebe et al (this study) / 110 / 1 / Pure / 25
(8 – 37) / France / G106R (c.316G>C)

Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73:967-971.

Munhoz RP, Kawarai T, Teive HA, et al. (2006) Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Mov Disord 21:279-281.

Reed JA, Wilkinson PA, Patel H, et al. (2005) A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 6:79-84.

Kaneko S, Kawarai T, Yip E, et al. (2006) Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Mov Disord 21:1531-1533.

Chen S, Song C, Guo H, et al. (2005) Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum Mutat 25:135-141.

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