Pontocerebellar hypoplasia type 2: a neuropathological update.
Pontocerebellar hypoplasia type 2: a neuropathological update.
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DOI：
10.1007/s00401-007-0263-0
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发表时间：
2007-10
影响因子：
12.7
通讯作者：
Troost D
中科院分区：
文献类型：
--
作者：
Barth PG;Aronica E;de Vries L;Nikkels PG;Scheper W;Hoozemans JJ;Poll-The BT;Troost D
脑桥小脑发育不全2型（PCH-2; MIM 277470），常染色体隐性遗传神经退行性变与胎儿发病，研究了6例尸检死亡年龄范围在1和22岁之间。三个病人是远亲。我们对一例橄榄体桥脑小脑发育不全（OPCH; MIM 225753）进行了比较研究。典型的调查结果是：短的小脑叶，分枝少（“发育不全”），蚓部相对保留，小脑皮质全层缺失的明显分界区域可能是由于发育早期的退化，齿状核节段性缺失伴保留的岛和反应性变化，下橄榄核节段性缺失伴反应性变化，脑桥腹侧核缺失，几乎没有脑桥横纤维，脊髓前角细胞保留。不同的发现是：囊性小脑变性，发现在两个，血管的变化仅限于小脑在一个。与橄榄体脑桥小脑发育不全（OPCH）的比较强烈表明这种疾病和PCH-2之间的病理连续性。免疫组织化学评价内质网应激反应为阴性。我们的结论是，PCH-2的神经病理学结果是足够具体的，使一个明确的诊断神经病理学的基础上。
Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was studied for comparison. Typical findings are: short cerebellar folia with poor branching (“hypoplasia”), relative sparing of the vermis, sharply demarcated areas of full thickness loss of cerebellar cortex probably resulting from regression at an early stage of development, segmental loss of dentate nuclei with preserved islands and reactive changes, segmental loss in the inferior olivary nucleus with reactive changes, loss of ventral pontine nuclei with near absence of transverse pontine fibers and sparing of spinal anterior horn cells. Variable findings are: cystic cerebellar degeneration, found in two, with vascular changes limited to the cerebellum in one. Comparison to olivopontocerebellar hypoplasia (OPCH) strongly suggests a continuum of pathology between this disorder and PCH-2. Immunohistochemical evaluation of the endoplasmic reticulum stress response is negative. We conclude that the neuropathological findings in PCH-2 are sufficiently specific to enable an unequivocal diagnosis based on neuropathology.
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DOI：
10.1053/ejpn.2000.0295
发表时间：
2000-01-01
期刊：
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
影响因子：
--
作者：
Chaves-Vischer, V;Pizzolato, G P;Haenggeli, C A
通讯作者：
Haenggeli, C A
影响因子：
5.2
作者：
HORSLEN, SP;CLAYTON, PT;WINCHESTER, B
通讯作者：
WINCHESTER, B
影响因子：
12.7
作者：
ALBRECHT, S;SCHNEIDER, MC;ARMSTRONG, DL
通讯作者：
ARMSTRONG, DL
影响因子：
12.7
作者：
Hoozemans, JJM;Veerhuis, R;Scheper, W
通讯作者：
Scheper, W
影响因子：
4.4
作者：
BERCIANO, J
通讯作者：
BERCIANO, J