Two cases of mucopolysaccharidosis type III (Sanfilippo)

Martin, J. J.; Ceuterick, C.; Dessel, G. Van; Lagrou, A.; Dierick, W.

doi:10.1007/bf00690842

Cited by 25 publications

(10 citation statements)

References 13 publications

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“…The changes observed are similar to those reported by several authors in later ages (Martin et al, 1979;Silberberg et al, 1972;Van Hoof and Hers, 1973).…”

Section: Pathological$ndingssupporting

confidence: 91%

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

et al. 1988

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Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-alpha-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.

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“…The changes observed are similar to those reported by several authors in later ages (Martin et al, 1979;Silberberg et al, 1972;Van Hoof and Hers, 1973).…”

Section: Pathological$ndingssupporting

confidence: 91%

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

et al. 1988

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“…6,22 In neuropathological studies on two patients with MPSIIIC cerebral atrophy and ballooning of the pyramidal cells including the Betz cells have been described. 20 In our study, patient III:01 and to a lesser degree her younger affected brother III.04 developed global brain atrophy and a Babinski sign indicating the development of upper motoneuron signs at the final stage of MPSIIIC.…”

Section: Discussionsupporting

confidence: 44%

“…13 A neuropathological study of the brains of two MPSIIIA and IIIC patients discovered ballooning of the neurons in the basal ganglia, the amygdala and the hippocampus. 20 Other studies described hippocampus and amygdala variably 21 or not at all 13 to be affected in MPSIII (types A-D). In contrast, patients with KBS secondary to amyotrophic lateral sclerosis or Alzheimer's disease revealed marked or moderate cell loss and gliosis of the amygdala.…”

Section: Discussionmentioning

confidence: 99%

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Hübner

Lukács

et al. 2016

Eur J Hum Genet

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“…Older patients frequently develop epileptic seizures (3,4). Autopsy of human cases revealed widespread neuronal vacuolization of most brain regions with a particularly high degree of storage in pyramidal cells of the third and fifth layers of the cerebral cortex, secondary cortical atrophy, white matter and ventricular dilatation, myelin pallor and fibrillary gliosis (5). A remarkable feature in the course of the disease is profound secondary accumulation of glycolipids and particularly high amounts of the gangliosides GM2 and GM3 in neurons (6).…”

Section: Introductionmentioning

confidence: 99%

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

Kowalewski

Heimann

Ortkras

et al. 2014

Human Molecular Genetics

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Deficiency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical and pathological features of the mucopolysaccharidoses and particularly features of mucopolysaccharidosis type III (Sanfilippo syndrome). Here we show that Arsg KO mice share common neuropathological findings with other Sanfilippo syndrome models and patients, but they can be clearly distinguished by the limitation of most phenotypic alterations to the cerebellum, presenting with ataxia as the major neurological finding. We determined in detail the expression of ARSG in the central nervous system and observed highest expression in perivascular macrophages (which are characterized by abundant vacuolization in Arsg KO mice) and oligodendrocytes. To gain insight into possible mechanisms leading to ataxia, the pathology in older adult mice (>12 months) was investigated in detail. This study revealed massive loss of Purkinje cells and gliosis in the cerebellum, and secondary accumulation of glycolipids like GM2 and GM3 gangliosides and unesterified cholesterol in surviving Purkinje cells, as well as neurons of some other brain regions. The abundant presence of ubiquitin and p62-positive aggregates in degenerating Purkinje cells coupled with the absence of significant defects in macroautophagy is consistent with lysosomal membrane permeabilization playing a role in the pathogenesis of Arsg-deficient mice and presumably Sanfilippo disease in general. Our data delineating the phenotype of mucopolysaccharidosis IIIE in a mouse KO model should help in the identification of possible human cases of this disease.

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Two cases of mucopolysaccharidosis type III (Sanfilippo)

Cited by 25 publications

References 13 publications

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

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