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Familial Aggregation of Chronic Obstructive Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Bernice H. Cohen, Gary A. Chase
Pulmonary hypoplasia occurs in a genetic skeletal dysplasia syndrome [2] and in bilateral renal agenesis syndrome [3]. There are various pulmonary complications in cerebral cholesterinosis (cerebrotendinous xanthomatosis) [4, 5]. In a number of the hereditary immune disorders—e.g., agammaglobulinemia of X-linked Bruton type [6], the immune defect associated with a deficiency of adenosine deaminase (combined immunodeficiency) [7], selective IgA deficiency, Fanconi syndrome [8], Rowley-Rosenberg syndrome [9,10], and anhidrotic ectodermal dysplasia [11]—chronic respiratory infections constitute a serious problem. Abnormalities of pulmonary function are found in Duchenne muscular dystrophy [12], and respiratory difficulties are also reported in several genetically determined neuromuscular disorders [13] as well as in some of the mucopolysaccharidoses, e.g., Hurler syndrome [14,15]. In the Marfan syndrome, also, chronic respiratory infections [16], sometimes exhibiting diminished pulmonary ventilation [17], impaired lung function in general [18], and susceptibility to emphysema [19] have been noted. Spontaneous pneumothorax [20] and bilateral pneumothorax with honeycombed lung [21] have also been reported.
Introduction to Human Cytochrome P450 Superfamily
Published in Shufeng Zhou, Cytochrome P450 2D6, 2018
Mutations in the CYP27A1 gene are known to be associated with cerebrotendinous xanthomatosis (CTX) (Bjorkhem 2013; Moghadasian 2004; Sundaram et al. 2008). CTX is a rare autosomal recessive lipid storage disorder in which cholestanol and cholesterol are accumulated in many tissues. CTX usually leads to tendon xanthoma, premature cataracts, juvenile atherosclerosis, and a progressive neurological syndrome involving mental retardation, cerebellar ataxia, pyramidal tract signs, myopathy, and peripheral neuropathy (Bjorkhem 2013; Moghadasian 2004; Sundaram et al. 2008). CYP27A1 is also a susceptibility gene for sporadic amyotrophic lateral sclerosis, which is a neurodegenerative disease characterized by progressive muscle weakness caused by loss of central and peripheral motor neurons (Diekstra et al. 2012).
The Cerebellar Ataxias and Hereditary Spastic Paraplegias
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Cholestanolosis (cerebrotendinous xanthomatosis) presents as a childhood-onset cerebellar ataxia with spasticity (which may be the prime feature), epilepsy, cognitive impairment, cataracts, neuropathy and xanthomas on tendons. Magnetic resonance scanning of the brain shows lesions of the dentate nuclei, brainstem and basal ganglia. The level of CSF protein is elevated and cholestanol levels are also increased as a result of an abnormality of bile salt synthesis; early treatment with chenodeoxycholic acid is partly effective. The condition is caused by mutations of the sterol 27-hydroxylase (CYP27A1) gene. Limited treatment is possible with chenodeoxycholic acid and pravastatin.
Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history
Published in Ophthalmic Genetics, 2023
Nurşen Öncel Acır, Burcu Taskiran Kandeger
Cerebrotendinous xanthomatosis (Online Mendelian Inheritance in Man No. 213700) is an autosomal recessive lipid storage disease that results from a defect in bile acid synthesis and is characterized by excessive accumulation of cholestanol and cholesterol in multiple tissues including the brain, tendons, and crystalline lens (1). The disease was first described in 1937 by Van Bogaert et al. (2). When chenodeoxycholic acid (CDCA) is not present in the bile of patients with cerebrotendinous xanthomatosis, the bile acid biosynthesis pathway is directed to the cholestanol pathway, resulting in high plasma cholestanol levels (3). While early childhood chronic diarrhea and juvenile cataract are early symptoms, tendon xanthomas and neurologic symptoms such as dementia, cerebellar ataxia, and impaired cognitive functions may develop in the second and third decades (4,5). Moreover, as neurological and mental deterioration progresses over time, early diagnosis of the disease is vital since complications can be avoided and even reversed with a positive biochemical response to chenodeoxycholic acid treatment (6,7). However, since cerebrotendinous xanthomatosis is frequently not diagnosed until the fourth or fifth decade of life, medical treatment cannot be applied optimally (3,8).
Genetic diseases mimicking multiple sclerosis
Published in Postgraduate Medicine, 2021
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Cerebrotendinous xanthomatosis(CTX) is caused by a mutation in the CYP27A1 gene encoding mitochondrial sterol 27- hydroxylase. The lack of sterol 27-hydroxylase prevents the metabolism of cholesterol, resulting in the accumulation of cholesterols inside and damage to the nerve cells. The clinical presentation of CTX is highly variable. Affected individuals can show from diarrhea and juvenile cataracts to the development of tendon xanthomas in their late-adolescents. Neurologic symptoms usually ensue if left untreated [189].