Table 1
	Family 1	Family 2	Family 3
Variant	p.Arg7Ser	p.Arg7Ser	p.Arg7Ser
Phenotype	dHMN - distal hereditary motor neuropathy	HSN - hereditary sensory neuropathy	HSP - hereditary spastic paraplegia
Onset and course of the disease	Onset in teens; Axonal neuropathy	Onset at the age of 25 years, foot ulceration	Onset of the disease from the age of 10, rapid worsening
Deep tendon reflexes	L2-S2 no response (0)	L2-S2 no response (0)	L2–4 brisk response (3+), L5-S2 clonus (4+)
Segregation	Not available	Unaffected son not a carrier	Affected daughter also a carrier