Abstract
Down syndrome (DS), caused by trisomy 21, is characterized clinically by somatic abnormalities, intellectual disabilities in children, and Alzheimer-type dementia in adults. The phenotype may vary, with minor brain anomalies such as hypoplasia of the superior temporal gyrus, brain stem, and cerebellum, decreased brain weight and rounded occipital poles [1]. Basal ganglia calcification is more frequently found in the region of the globus pallidus and putamen, and its incidence increases with age [2]. Dendrites gradually show abnormal arborization and decreased spines after 4 months of age [3,4]. Alzheimer-type dementia with neuritic plaques and neurofibrillary tangles develops in young adults. Senile plaques and cerebrovascular amyloidosis involve β-amyloid protein (Aβ). In Alzheimer-type dementia, Aβ42, which aggregates more rapidly than Aβ40, is a major component of diffuse (early) plaques, whereas Aβ43 demonstrates early axonal damage in diffuse plaques [5].
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3 Chromosomal Abnormalities
Becker LE, Mito T, Takashima S, Onodera K, Friend WC (1993) Association of phenotypic abnormalities of Down syndrome with an imbalance of genes on chromosome 21. APMIS Suppl 40:57–70.
Takashima S, Becker LE (1985) Basal ganglia calcification in Down’s syndrome. J Neurol Neurosurg Psychiatry 48:61–64.
Becker L, Mito T, Takashima S, Onodera K (1991) Growth and development of the brain in Down syndrome. Prog Clin Biol Res 373:133–152.
Takashima S, Becker LE, Armstrong DL, Chan F (1981) Abnormal neuronal development in the visual cortex of the human fetus and infant with Down’s syndrome: a quantitative and qualitative Golgi study. Brain Res 225:1–21.
Hirayama A, Horikoshi Y, Maeda M, Ito M, Takashima S (2003) Characteristic developmental expression of amyloid beta 40, 42 and 43 in patients with Down syndrome. Brain Dev 25:180–185.
Motonaga K, Itoh M, Becker LE, Goto Y, Takashima S (2002) Elevated expression of beta-site amyloid precursor protein cleaving enzyme 2 in brains of patients with Down syndrome. Neurosci Lett 326:64–66.
Gullotta F, Rehder H, Gropp A (1981) Descriptive neuropathology of chromosomal disorders in man. Hum Genet 57:337–344.
Inagaki M, Ando Y, Mito T, Ieshima A, Ohtani K, Takashima S, Takeshita K (1987) Comparison of brain imaging and neuropathology in cases of trisomy 18 and 13. Neuroradiology 29:474–479.
Michaelson PS, Gilles FH (1972) Central nervous system abnormalities in trisomy E (17–18). J Neurol Sci 15: 193–208.
Maggio MC, Iachininoto R, Arena V, Liotta A (2003) Interstitial deletion of the long arm of chromosome 1(1q25–32): clinical and endocrine features with a long follow-up. Minerva Pediatr 55:55–61.
Lo LJ, Noordhoff MS, Huang CS, Chen KT, Chen YR (1993) Proximal deletion of the long arm of chromosome 1:[del(1)(q23–q25)]. Cleft Palate Craniofac 30: 586–589.
Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E (2004) Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion. Am J Med Genet 127:197–200.
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(2007). Chromosomal Abnormalities. In: Pediatric Neuropathology. Springer, Tokyo. https://doi.org/10.1007/978-4-431-49898-8_3
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DOI: https://doi.org/10.1007/978-4-431-49898-8_3
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