Table.

Clinical Features of the Family with Motor Neuron Disease with TDP-43 A315T Mutation

Subject No.	Age at Onset/Death (yr)	Clinical Findings					Electrophysiology
		Mental Status	Cranial Nerves	Respiratory Involvement	Site of Onset	Disease Course	Nerve Conductions (age performed [yr])	Electromyography
II-2	72/79	Normal	Normal	Yes	Left lower extremity	Progressive, asymmetric lower motor neuron loss in legs before arms, distal before proximal; brisk reflexes; death from respiratory weakness	Normal SNAP amplitudes, normal sensory and motor velocities (72)	Fibs/PSW in legs, thoracic paraspinous muscles; reduced recruitment; occasional large motor units; fasciculations throughout
II-3	64/74	Normal	Normal	Yes	Left lower extremity	Progressive asymmetric lower motor neuron loss in legs before arms, distal and proximal; brisk reflexes; death from respiratory weakness	Normal SNAP amplitudes, normal sensory and motor velocities (68)	Fibs/PSW in legs and arms; reduced recruitment; occasional large motor units; fasciculations throughout
II-4	83	Normal	Normal	Yes	Right lower extremity	Progressive asymmetric lower motor neuron loss, distal and proximal, legs before arms; brisk reflexes	Not available	Not available
III-1	48	Normal	Normal	No	Right upper extremity	Progressive asymmetric lower motor neuron loss, distal before proximal, arms before legs	Normal SNAP amplitudes, normal sensory and motor velocities (49)	Fibs/PSW in arms; fasciculations in arms/legs

TDP-43 = TAR DNA-binding protein 43; SNAP = sensory nerve action potential; Fibs = fibrillations; PSW = positive sharp waves.