Three subtypes have been described: MEN2A (Sipple syndrome) is the most frequent form, characterized by MTC in 95% of cases, phaeochromocytoma in 50% and parathyroid hperplasia or adenoma in 25%. In familial MTC (FMTC), MTC is the only clinical manifestation. MEN2B (Gorlin syndrome) is the least frequent variant defined by predisposition to MTC and phaechromocytoma and marfanoid habitus, mucosa...

Medullary thyroid carcinoma occurs most often as a sporadic malignancy, although in approximately 30% of cases, it occurs as part of the multiple endocrine neoplasia type 2 (MEN2) syndromes MEN2A and MEN2B or the related disease, familial medullary thyroid carcinoma. These three syndromes, inherited as autosomal dominant traits, are clinically characterized by near complete penetrance but varia...

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1. Review of the literature ..........................................................................................1 1.1. Brain dopaminergic system ..................................................................................... 1 1.1.1. Development of the midbrain dopaminergic system ............................ 2 1.2. Parkinson’s disease...................................................

As early as 1912, Wilhelm Weinberg, the visionary human geneticist, noted that infants with achondroplasia (short-limbed dwarfism) tended to be born late in their sibship [1]. From this he made the astonishing intellectual leap to the conclusion that this might signal a mutational origin for these infants’ condition. This was an amazing insight considering the limited knowledge of mutation at t...