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Type 3a is characterized by progres
Type 3a is characterized by progressive dementia, ataxia, and myoclonus.34
Type 3b has extensive visceral and bone involvement with CNS involvement limited to supranuclear gaze palsy (saccade initiation failure, with compensatory head thrusting), either alone or a more slow progressive neurodegenerative syndrome.35
Type 3c (cardiovascular form) is rare and characterized by supranuclear gaze palsy, corneal opacity, and cardiovascular calcification, with little visceral disease.36 It is a unique phenotype associated with homozygosity for the D409H mutation commonly found in the Mediterranean population.
Type 3b has extensive visceral and bone involvement with CNS involvement limited to supranuclear gaze palsy (saccade initiation failure, with compensatory head thrusting), either alone or a more slow progressive neurodegenerative syndrome.35
Type 3c (cardiovascular form) is rare and characterized by supranuclear gaze palsy, corneal opacity, and cardiovascular calcification, with little visceral disease.36 It is a unique phenotype associated with homozygosity for the D409H mutation commonly found in the Mediterranean population.
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Type 3a is characterized by progressive dementia, ataxia, and myoclonus.34Type 3b has extensive visceral and bone involvement with CNS involvement limited to supranuclear gaze palsy (saccade initiation failure, with compensatory head thrusting), either alone or a more slow progressive neurodegenerative syndrome.35Type 3c (cardiovascular form) is rare and characterized by supranuclear gaze palsy, corneal opacity, and cardiovascular calcification, with little visceral disease.36 It is a unique phenotype associated with homozygosity for the D409H mutation commonly found in the Mediterranean population.
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Jenis 3a ditandai dengan demensia progresif, ataksia, dan myoclonus.34
jenis 3b memiliki luas visceral dan tulang keterlibatan dengan keterlibatan SSP terbatas supranuclear menatap palsy (kegagalan inisiasi saccade, dengan menyodorkan kepala kompensasi), baik sendiri atau lebih lambat sindrom neurodegenerative progresif 0,35
Jenis 3c (bentuk kardiovaskular) jarang dan ditandai dengan supranuclear menatap palsy, opacity kornea, dan kalsifikasi kardiovaskular, dengan sedikit disease.36 visceral ini adalah fenotipe unik yang terkait dengan homozigositas untuk mutasi D409H umum ditemukan pada populasi Mediterania.
jenis 3b memiliki luas visceral dan tulang keterlibatan dengan keterlibatan SSP terbatas supranuclear menatap palsy (kegagalan inisiasi saccade, dengan menyodorkan kepala kompensasi), baik sendiri atau lebih lambat sindrom neurodegenerative progresif 0,35
Jenis 3c (bentuk kardiovaskular) jarang dan ditandai dengan supranuclear menatap palsy, opacity kornea, dan kalsifikasi kardiovaskular, dengan sedikit disease.36 visceral ini adalah fenotipe unik yang terkait dengan homozigositas untuk mutasi D409H umum ditemukan pada populasi Mediterania.
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