Table 1.

Clinical summary of five patients with GSS P102L.

Case	Age at onset, y/sex	Duration from onset (y)	Family history	Ataxia	Supranuclear palsy	Extrapyramidal sign	Areflexia of lower limbs	Dysesthesia in lower limbs	Brain magnetic resonance imaging abnormalities	Electroencephalography periodic synchronous discharge findings	DAT-SPECT	Nerve conduction studies	Prion gene mutation P102L	Codon 129	14–3–3 protein	RT-QUIC
1	69/M	2	+	+	+	+	+	+	−	−	+	+	+	Met/Met	−	−
2	63/F	4	+	+	+	+	+	+	−	−	+	+	+	Met/Met	−	−
3	65/M	1	−	+	+	+	+	+	−	−	+	N/A	+	Met/Met	−	−
4	58/F	1	+	+	−	+	+	+	−	−	+	+	+	Met/Met	−	−
5	78/F	9	+	+	+	+	+	+	+	+	+	+	+	Met/Met	+	N/A

Ataxia included dysarthria, trunk ataxia, and limb ataxia.

Extrapyramidal Sign included hypokinesia, akinesia, bradykinesia, and rigidity.

Nerve conduction study included decreases in compound muscle action potential (CMAP) and sensory nerve action potential (SNAP), prolonged distal latency, and prolonged F-wave latency.

N/A, not available; +, positive; −, negative.