Table 2.

Pleiotropic Effects of SCARB2/Limp2 Deficiency in Man and Mice

	Action Myoclonus Renal Failure Syndrome	Limp2-Deficient Mouse
Myoclonus and seizures	Central feature: progressive and severe	Absent
Ataxia	Moderate	Mild
Hearing	Normal hearing and audiograms	Deaf from 3 months
Peripheral nerves	Clinically normal; nerve-conduction studies in some subjects show evidence of a mild sensorimotor neuropathy	Demyelinating neuropathy
Brain pathology	Intracellular storage, apparently extra-neuronal	Storage in neurons and astrocytes
Pelvi-ureteric obstruction	Absent	Present in most mice
Glomerular pathology	Central feature: severe focal glomerulosclerosis with glomerular collapse	Minor mesangial proliferation, podocyte effacement; no glomerulosclerosis