ATAXIAS, SPASTIC core panel

AFG3L2, KIF1C, MTPAP, SACS, SPG7, VAMP1

Description

Scientific Background

  • Spastic ataxia (SPG7, AR)
  • Spastic ataxia type 1 (VAMP1, AD)
  • Spastic ataxia type 2 (KIF1C, AR)
  • Spastic ataxia type 4 (MTPAP, AR)
  • Spastic ataxia type 5 (AFG3L2, AR)
  • Spastic ataxia, Charlevoix-Saguena type (SACS, AR)

 

Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) pattern. Genes in bold are core genes.

 

For detailed information on ataxias and diagnostics, please visit our overview page ATAXIAS.

GENES

AFG3L2, KIF1C, MTPAP, SACS, SPG7, VAMP1

ASSOCIATED TESTS

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