Cerebrospinal degeneration

Kearns-Sayre syndrome [17] A multisystem disorder characterized by the invariant triad onset before age 20 years, PEO, pigmentary retinal degeneration plus at least one of the following complete heart block, cerebrospinal fluid protein above 100 mg/dl, cerebellar ataxia. Large-scale heteroplasmic mitochondrial DNA deletions are frequently detected in skeletal muscle (rarely in other tissues). 

Albert ML, Austin LM, Darnell RB. Detection and treatment of activated T cells in the cerebrospinal fluid of patients with paraneoplastic cerebellar degeneration. Ann Neurol 2000 47(1) 9 17. 

Branched-chain-oxoacid dehydrogenase complex, which is responsible for the oxidative decarboxylation of the oxoacids derived from leucine, isoleucine and valine. Increased concentrations of all 3 branched chain amino acids and their oxoacids in urine, plasma and cerebrospinal fluid. Serum tilso contains alloiso-leucine (probably derived from isoleucine). Urine has characteristic odor. Marked cerebral degeneration apparently shortly after birth. Usually fatal within weeks or months of birth. 

B. Malignant degeneration of hypophyseal adenomas Extremely rare, they originate in the hypophyseal cells, but differ from the adenoma by their invasiveness and their ability to metastasize in the cerebrospinal fluid or the bloodstream... 

In some Tay-Sachs patients the lipid content of the cerebrospinal fluid was increased from the normal 1.25 mg per 100 ml to 2 mg per 100 ml or more. The excess lipid may result from degeneration of myelin since cholesterol, cerebrosides, sphingomyelin and plasmalogens prevail. Photometric determination of N-acetyl-neuraminic acid (NANA) in the cerebrospinal fluid (Saifer and Gerstenfield 1962) gave borderline results. Since NANA may be increased in other neurologic disorders the test is of no value for the diagnosis of TSD. 

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