PORTUGUESE TYPE FAMILIAL AMYLOID NEUROPATHY
\pˌɔːt͡ʃəɡˈiːz tˈa͡ɪp famˈɪlɪəl ˈamɪlˌɔ͡ɪd njuːɹˈɒpəθɪ], \pˌɔːtʃəɡˈiːz tˈaɪp famˈɪlɪəl ˈamɪlˌɔɪd njuːɹˈɒpəθɪ], \p_ˌɔː_tʃ_ə_ɡ_ˈiː_z t_ˈaɪ_p f_a_m_ˈɪ_l_ɪ__ə_l ˈa_m_ɪ_l_ˌɔɪ_d n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ]\
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Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
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Olivopontocerebellar Atrophies
- group inherited disorders which share progressive ataxia combination with atrophy CEREBELLUM; PONS; inferior olivary nuclei. Additional features include RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; OPHTHALMOPLEGIA. familial has an earlier onset (second decade) and may feature spinal cord atrophy. sporadic form tends to present in the fifth or sixth decade, is considered a clinical subtype MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
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