Table 3.

Allelic Disorders to Consider in the Differential Diagnosis of Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2)

GeneDisorderMOIComment / Reference
KIF1A Hereditary spastic paraplegia 30 (OMIM 610357)AR
AD		See Hereditary Spastic Paraplegia Overview. An entire KIF1A deletion was reported in 1 person [Pennings et al 2020].
NESCAV syndrome (OMIM 614255)ADNeurodegeneration & spasticity ± cerebellar atrophy or cortical visual impairment
Early onset or congenital ataxiaAD Nicita et al [2020]
SCN9A Congenital insensitivity to pain ARSee Differential Diagnosis.
SCN9A neuropathic pain syndromes ADIncl erythromelalgia, paroxysmal extreme pain disorder, & small fiber neuropathy
Generalized epilepsy febrile seizures plus; simple febrile seizures (OMIM 613863)AD
WNK1 Pseudohypoaldosteronism type II (PHA2C)ADHypertension, hyperkalemia, & renal tubular acidosis. HSAN2-causing WNK1 variants are apparent LOF variants & are not assoc w/PHA2C (see Molecular Genetics).

AD = autosomal dominant; AR = autosomal recessive; LOF = loss of function; MOI = mode of inheritance

From: Hereditary Sensory and Autonomic Neuropathy Type II

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