ATAXIAS, SPASTIC extended panel

AFG3L2, CAPN1, CHP1, GBA2, GJC2, KIF1C, MARS2, MTPAP, NKX6-2, POLR3A, SACS, SPG7, VAMP1, ZFYVE26

Description

Scientific Background

  • Spastic ataxia (SPG7, AR)
  • Spastic ataxia (POLR3A, AR)
  • Spastic ataxia type 1 (VAMP1, AD)
  • Spastic ataxia type 2 (KIF1C, AR)
  • Spastic ataxia type 3 (MARS2, AR)
  • Spastic ataxia type 4 (MTPAP, AR)
  • Spastic ataxia type 5 (AFG3L2, AR)
  • Spastic ataxia type 8 with hypomyelinating leukodystrophy (NKX6-2, AR)
  • Spastic ataxia type 9 (CHP1, AR)
  • Spastic ataxia, Charlevoix-Saguena type (SACS, AR)
  • Spastic paraplegia 15 (ZFYVE26, AR)
  • Spastic paraplegia 44 (GJC2, AR)
  • Spastic paraplegia 76 (CAPN1, AR)
  • Unknown (GBA2, -)

 

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, CAPN1, CHP1, GBA2, GJC2, KIF1C, MARS2, MTPAP, NKX6-2, POLR3A, SACS, SPG7, VAMP1, ZFYVE26

ASSOCIATED TESTS

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