Inherited diseases

TABLE 45-1 a-Synuclein diseases Idiopathic Parkinson s disease Dementia with Lewy bodies Pure autonomic failure REM sleep behavior disorder Lewy body dysphagia Incidental Lewy body disease Inherited Lewy body diseases Multiple system atrophy... 

Human prion diseases encompass the three etiological types of prion disease inherited, sporadic and acquired forms. 

In patients with Niemann-Pick disease, inherited deficiency of this enzyme causes spingomyelin to accumulate in lysosomes of the brain, bone marrow, and other organs. 

Mitochondrial P oxidation of fatty acids is the principal source of energy for the heart. Consequently, inherited defects of fatty acid oxidation or of carnitine-assisted transport often appear as serious heart disease (inherited cardiomyopathy). These may involve heart failure, pulmonary edema, or sudden infant death. 

Type 2 von Willebrand disease, diagnosed in 9% to 30% of affected patients, is characterized by a qualitative abnormality of von Willebrand factor. Bleeding manifestations may be more severe than with type 1 disease. Inheritance is most often autosomal dominant, but may be recessive. Type 2 von Willebrand disease may be further subdivided into four variants. Type 2A is the most frequent subtype and is characterized by a reduced von Willebrand factor-platelet interaction and an absence of high- and intermediate-molecular-weight factor multimers. Type 2B is a less common variant in which there is an abnormal von Willebrand factor that has an increased affinity for the platelet glycoprotein Ib receptor. This is associated with thrombocytopenia, which is usually mild. In addition, there are usually no high-molecular-weight forms of von Willebrand factor. Type 2M... 

A 17-year-old female, whose parents were first cousins, presents to a neurologist because of recurring seizures despite being on anticonvul-sive therapy. Nodules that appeared to be fatty deposits were present on her Achilles tendon and several of her joints. Plasma cholesterol concentrations were elevated, and an assay of plasma sterols indicated elevated cholestanol. Cultured skin fibroblasts did not contain any sterol 27-hydroxylase activity. A diagnosis of cerebrotendinous xanthomatosis, a genetic disease inherited in an autosomal fashion, was made. A deficiency in sterol 27-hydroxylase would lead to a decrease in the synthesis of which of the following compounds ... 

Sickle cell disease - inherited disorder of abnormal haemoglobin... 

A number of other problems that interfere either with the electron transport chain or pyruvate oxidation in the TCA cycle result in lactic acidemia (see Fig.22.15). For example, OXPHOS diseases (inherited deficiencies in subunits of complexes in the electron transport chain, such as MERFF) increase the NADH/NAD ratio and... 

Figure 2.13 A single cSNP makes for a deadly disease. Inheriting both alleles of this A T mutation results in sickle cell anemia.

In future work, we wiU extend and validate the different models to other class of diseases. Approximately 1-1.5 % of the French population suffer from dementia and the causes of dementia are neurological disorders such as Alzheimer s disease (which causes 50 %-70 % of aU dementia), blood flow-related (vascular) disorders such as multi-infarct diseases, inherited disorders such as Huntington s disease, and infections such as HIV [15]. In fact, we would like to simulate the patient s progress in order to forecast and to analyze the need for long, medium and short-term care. This allows us to evaluate human, financial and physical resources in the future. 

Menkes s Disease. In 1962 Menkes and coworkers [17] reported an invariably fatal, progressive brain disease inherited in a X-linked recessive manner. The disease is characterized by focal cerebral and cerebeller degeneration, retardation of growth, and peculiar hair, called kinky... 

Arun P, Madhavarao CN, Moffett JR, et al. Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. / Inherit Metab Dis. 2010 33 195-210. 

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