Table 1.

Mucopolysaccharidoses (MPS) patients and control subjects used in the study.

UMBN	GUID	Disorder	Cause of Death	Age: Years, Days	Sex	Race	Clinical Information	Neuropathologic Findings
561	NDAR_INVYV182KRN	MPS I, Hurler Syndrome	Complications of disorder	6, 265	Female	Caucasian	Was oxygen dependent; had hydrocephalus, cardiomyopathy, chronic sinusitis, ear infections, blindness, hearing impairment, numerous pneumonias and hernias.	Neocortex with distended, "ballooned" neurons with mucin- and Alcian-blue positive material, also present throughout the central nervous system; occasional perivascular macrophages with similar material in the white matter; EM shows typical "zebra bodies" seen in mucopolysaccharidoses.
902	NDAR_INVTG497HU7	MPS II, Hunter Syndrome	Complications of disorder	42, 134	Male	Caucasian	Had multiple complications related to Hunter’s syndrome, including tracheobronchial malacia, recurrent bronchitis and pneumonia, had multiple repairs of anterior abdominal wall hernia, was blind and somewhat deaf, had bilateral carpal tunnel release, history of mitral and aortic insufficiency, congestive heart failure.	Gliosis with axonal degeneration, optic nerves bilaterally, with neuronal loss and gliosis, lateral geniculate nucleus, old hemorrhagic cystic infarct, right occipital cortex and white matter, periventricular benign epidermal cyst, right occipital.
3617	NDAR_INVFP950EUM	MPS IIIA, Sanfilippo A Syndrome	Complications of disorder	12, 38	Female	Caucasian	N/A	Neurons throughout the brain have enlarged cell bodies with foamy cytoplasm, mild gliosis and status spongiosis in adjacent parenchyma, these neuronal changes are particularly severe in cerebral cortex, Purkinje cell layer of the cerebellum and substantia nigra. The choroid plexus epithelial cells are similarly affected with slightly enlarged and vacuolated cytoplasm. The centrum semi-ovale is mildly gliotic, its perivascular spaces dilated, fibrotic and contain glitter cells and occasional lymphocytes.
563	NDAR_INVRR063YHC	MPS IIIA, Sanfilippo A Syndrome	Complications of disorder	11, 101	Female	Caucasian	Two years before the death was attending school although having trouble walking and eating, by the time of death was non-verbal with deteriorating psychomotor skills, self-injurious behavior, had problems with sleep and agitation, suffered from mitral valve prolapse with myxomatous changes and mild regurgitation.	N/A
6194		MPS IIIC, Sanfilippo C Syndrome	Acute pneumonia as a consequence of disorder	20, 95	Male	African-American	Had a history of developmental delays, Nissen fundoplication and G-tube, asthma, seizures, sleep problems, agitation, used hearing aids.	The brain showed cerebral atrophy, mild hydrocephalus, neuronal enlargement with positive cytoplasmic PAS, Alcian blue and LFB, perivascular cuffing of foamy macrophages, white matter vacuolation.
5411	NDAR_INVAB442TCG	MPS IIID, Sanfilippo D Syndrome	Complications of disorder	24, 280	Female	Caucasian	One of two siblings suffering from Sanfilippo D, had a progressive neurologic decline with loss of vision, verbal expression, continence; had rare seizures in spite of anticonvulsive treatment and was wheelchair bound for the last year of life.	Generalized cerebral atrophy and neuronal storage disorder.
5424	NDAR_INVUC095YP2	MPS IIID, Sanfilippo D Syndrome	Complications of disorder	23, 149	Female	Caucasian	One of two siblings suffering from Sanfilippo D, had a progressive decline in hearing, verbal and visual abilities, had no specific cardiopulmonary symptomatology, no seizures, wheelchair bound for the last two years of life.	Generalized cerebral atrophy and neuronal storage disorder.
HBCB_18_01_OC		MPS II, Hunter Syndrome	Complications of disorder	13, 0	Male	Caucasian	Had a history of developmental delays, scoliosis, asthma, tracheomalacia, GERD, seizures and mild aortic regurgitation.	Diffuse neuronal loss, gliosis in the cortex; abundant swollen neurons, greatest in the parietal and occipital cortex; severe neuronal loss and gliosis in the thalamus; depletion of processes and varying gliosis in the cerebellum.
662	NDAR_INVCK582GNX	Unaffected Control	Accident, multiple injuries	12, 356	Female	Caucasian		N/A
754	NDAR_INVJV820CBR	Unaffected Control	Asthma	11, 201	Female	Native Hawaiian/Pacific Islander		N/A
1266	NDAR_INVCX672EJ2	Unaffected Control	Arteriosclerotic cardiovascular disease	42, 0	Male	Caucasian		N/A
4641	NDAR_INVNG087HR2	Unaffected Control	Acute asthma	24, 288	Female	African-American		N/A
5287	NDAR_INVUB832RTY	Unaffected Control	Multiple injuries	23, 195	Female	Caucasian		N/A
5813	NDAR_INVWA136XNT	Unaffected Control	Atherosclerotic cardiovascular disease	20, 362	Male	African-American		N/A
5977	NDAR_INVAX199AGW	Unaffected Control	Smoke inhalation	6, 248	Female	Caucasian		N/A