Table 1.

All reported variations in the giant axonal neuropathy (GAN) gene and clinical presentations of the patients with these variations (Part II)

Muscle		Foot deformity	Areflexia	Ataxia	Nystagmus	Facial weakness	ID	Kypho scoliosis	Scoliosis	Sensory impairment	EMG	MRI
atrophy	weakness										Abnormality
		Flat feet		+							+
+		Pes cavus								-	+
+		Pes equinovarus									+
+		Pes equinovarus								+	+
+	+	Pes cavus	+				-		+	+	+	+
	+	Pes planus	-	-	-	-	-				-	-
	+	Pes planus	-	-	-	-	-					-
	+	Pes planus	-	-	-	-	-					-
	+	+	-	-	-	-	+			-		NA
	+	+	-	-	-	-	-					NA
	+	Pes planus	+	+			-	Kyphosis			-	-
+		Pes planovalgus					+			-	+	-
				NA								+
	+		+	+							+	+
-	+	Pes valgus	+	+	+	NA	NA		NA	NA		+
	+		+		+		-				+
			+	NA					-	+	+	-
-	+	Pes planovalgus, genu valgum	+			-	-		+	+	+	-
			+							+
	+	Pes cavus			+		-		+	+	+	-
+		Ankle sprains		+	+		+		+	+		+
	+	+	+			+	-	+	+	+
		+				-	-		-			+
-	-	Fixed supination deformity	+			-	-		-	-	NA	NA
		-	+	+	+	+	+		+	+	+
			+	+					-	+	+	+
			+	+					-		+	-
+	+	Pes cavus			+		-		+	+		+
			+	+					+	+	+	-
			+	+					+	+	+	-
	+	Pes cavus, pes equinovarus			+		-			+	+	-
+	+	Varus	+	+	+		-
+	+	Pes equinovalgu, pes planus	+		+	-	-	-	+	+	+	+
+	+	Pes equinovalgu, pes planus	+		+	-	+	+	+	+
-	+	-	+	+		-	-	+	+	+
+	+	Pes equinovalgu, pes planus	+	+	+	-	-	+	+	+	+	+
	+		+	+	+	+				+
			-	-					+	NA	+	+
	+		+	+							+	+
	+		+	+							+	+
			+	+					NA		+	-
+		Pes cavus	+	+	+				+	+		+
+	+			+		+	+		+	+		+
+	+		+							+
+	+	Pes cavus	+		+	+			+	+	+	+
	-		+	+							+
	+		+	+							+
	-		+	+							+	+
+	+	Pes equinovarus	+	+	+	+			Hyperlordosis	+
+	+	Club feet	+		+	-	-		-	+	+	+
	-		+	+							+	+
+	+	Pes equinovarus	+	+	+	+			Hyperlordosis	+
+	+	Club feet	+		+	-	-		-	+	+	+
+	+	Pes cavus	+		+	-	-		+	-	+	+
			+	+					NA	+	+	NA
			+	+					+	+	+	+
			+	+					NA	NA	+	NA
			+	+					NA		+	NA
			-	+					+	-	+	NA
			+	+			+				+	+
+	+		+								+	+
+	+		+								+	+
+	-		+	+							+	+
		+				+	+		+			+
+	+				+	+, Ptosis	+		+	+	+	+
+	+			+	+	-	-		-	+	-
												NA
	+			+	+	+, Ptosis			+	+	+	+
	+	Pes planovalgus		+	+	+	+
			+	+	+		-				+	+
+		Pes cavus					+			+	+
+		Pes equinovarus								+
+		Pes equinovarus								+
	+			+							+	+

AAO: Age at onset; F: Female; M: Male; NA: Not available; ID: Intellectual disability; EMG: Electromyography; MRI: Magnetic resonance imaging; cDNA: Complementary deoxyribonucleic acid

^##Other symptoms were dementia and seizures, ^&&Other symptoms were respiratory insufficiency and optic atrophy, ^{^}Other symptoms included spasticity, dysarthria, difficulties with breathing and swallowing, ^$Other symptoms were difficulties with swallowing, spasticity, and dysarthria, ^&Other symptoms were dysphagia, visual problems, and optic atrophy, ^#Other symptoms included dullness, apathy, urinary incontinence, thick curved eyelashes and eyebrows, depressed nasal bridge, dental malocclusion, dry skin, fasciculations of the tongue, and generelized hypotonia, ^@Other symptoms included thick curved eyelashes and eyebrows and dry skin

This table is based on the first report of the mutations.