Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis

Table 2 Clinical features of patients with specific variants in SPTLC1 and SPTLC2

Clinical feature	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6
Gene change	p.S331T	p.R239Q	p.E406K	p.Q229R	p.T409M	p.G435V
Sex	Male	Female	Female	Male	Male	Female
Fasciculation	Yes	No	No	Yes	Yes	No
Spasticit	No	No	No	No	No	No
Drug exposure	No	No	No	No	No	No
Smoking	Now	No	No	No	Now	No
Drinking	Used to drink	No	No	Used to drink	No	No
Sensory	Normal	Normal	Normal	Normal	Normal	Normal
Toxin	Pesticide	No	No	No	Pesticide	No
Onset site	Proximal lower limb	Distal upper limb	Bulbar	Proximal upper limb	Proximal upper limb	Proximal lower limb
Onset symptom	Fatigue	Fatigue	Dysarthria	Fatigue	Fatigue	Fatigue
Tongue myoclonus	No	Yes	Yes	Yes	Yes	No
Tongue atrophy	No	Yes	Yes	Yes	Yes	No
Choking	No	Yes	Yes	No	No	No
Dysphagia	No	Yes	Yes	No	No	No
Dysarthria	No	Yes	Yes	No	No	No
Pharyngeal reflex	Hyporeflexia	Hyperreflexia	Disappear	Hyporeflexia	Disappear	Normal

ISSN: 1479-7364