|
Hereditary Sensory & Autonomic Neuropathy Syndromes
|
| HSN Disorder |
Gene |
Chromosome |
Inheritance |
Onset Age |
Clinical features |
Axon loss |

Cajal
|
| I |
SPTLC1 |
9q22 |
Dominant |
> 20 years |
Pan-sensory loss Acromutilation |
Small > Large |
| II |
WNK1/HSN2 |
12p13 |
Recessive |
Congenital, or Early childhood |
Sensory loss Acromutilation |
Large & Small |
| III |
IKBKAP |
9q31 |
Recessive |
Congenital |
Riley-Day Syndrome |
Large & Small |
| IV |
TRKA/ NGF receptor |
1q21 |
Recessive |
Congenital, or Early childhood |
Sensory neuropathy Anhidrosis |
C-axon |
| V |
|
|
Recessive |
Congenital, or Early childhood |
Absence of pain No anhidrosis |
Aδ-axons |
| Absent pain |
NGF-b |
1p13 |
Recessive |
Early childhood to Adult |
Absence of pain No anhidrosis |
Aδ- & C-axons |
Inability to experience pain |
SCN 9A |
2q24 |
Recessive |
Congenital |
Absence of pain No anhidrosis |
None |
| Erythromelalgia |
SCN 9A |
2q24 |
Dominant |
Childhood |
Pain, distal Episodic |
None |
Biemond ataxia
 |
|
|
Dominant |
19 to 30 years |
Sensory loss |
Large axons |
Ataxic neuropathy |
|
|
Dominant |
After 4th decade |
Sensory loss Ataxia |
Large axons |
| Ulcero-mutilation |
|
|
Dominant |
5 to 30 years |
Acromutilation |
Large & Small |
| Spastic paraparesis |
|
5p15 |
Recessive |
1 to 5 years |
Acromutilation |
Large & Small |