. "[A18A0F2DF360]" . "Early-onset hereditary Alzheimer\u00B4s disease caused by p.M139V mutation in the PSEN1 gene - a case report"@en . . "201912" . "Heredit\u00E1rn\u00ED \u010Dasn\u00E1 forma Alzheimerovy nemoci v d\u016Fsledku z\u00E1rode\u010Dn\u00E9 mutace p.M139V v genu PSEN1 - kazuistika" . "Alzheimer's disease is the most frequently diagnosed form of dementia in older patients. In some families, a tendency to this disorder may be inherited. This case report describes a 43-year-old man in the family of whom are six other members suffering from dementia, between the ages of 40 and 50 years. Molecular genetic analysis revealed a pathogenic c.415A>G (p.M139V) mutation in exon 5 of the PSEN1 gene in the heterozygous state. The same mutation was found in a cousin who has also suffered from dementia since the age of 45. Thus a hereditary predisposition to the early-onset form of Alzheimer's disease was confirmed in this family at a molecular level. The patient was followed up for eight years. Gradual deterioration of cognitive functions and progression of brain atrophy was observed on MRI. Similar changes were observed in the cousin. Genetic testing in families suffering from dementia may be important in the future, together with the development of drugs capable of preventing the disease."@en . "Alzheimerova demence je nej\u010Dast\u011Bj\u0161\u00ED demence u pacient\u016F ve star\u0161\u00EDm v\u011Bku. V n\u011Bkter\u00FDch rodin\u00E1ch m\u016F\u017Ee b\u00FDt geneticky podm\u00EDn\u011Bna. Na\u0161e kazuistika ukazuje p\u0159\u00EDpad 43let\u00E9ho mu\u017Ee, v jeho\u017E rodin\u011B se vyskytlo dal\u0161\u00EDch \u0161est \u010Dlen\u016F rodiny s manifestac\u00ED demence ve v\u011Bku 40\u201350 let. Genetick\u00FDm vy\u0161et\u0159en\u00EDm byla u pacienta prok\u00E1z\u00E1na patogenn\u00ED mutace c.415A>G (p.M139V) v exonu 5 genu PSEN1 v heterozygotn\u00EDm stavu. Stejn\u00E1 mutace byla zji\u0161t\u011Bna u demenc\u00ED posti\u017Een\u00E9ho bratrance. V rodin\u011B tak byla potvrzena heredit\u00E1rn\u00ED predispozice k \u010Dasn\u00E9 form\u011B Alzheimerovy demence s autozom\u00E1ln\u011B dominantn\u00ED d\u011Bdi\u010Dnost\u00ED na molekul\u00E1rn\u00ED \u00FArovni. V\u00FDvoj onemocn\u011Bn\u00ED byl u pacienta sledov\u00E1n po dobu osmi let. Postupn\u011B doch\u00E1z\u00ED k deterioraci kognitivn\u00EDch funkc\u00ED a v\u00FDvoji atrofick\u00FDch zm\u011Bn mozku dle magnetick\u00E9 rezonance. Obdobn\u00E9 zm\u011Bny jsou pozorov\u00E1ny u jeho bratrance. Genetick\u00E9 vy\u0161et\u0159ov\u00E1n\u00ED v rodin\u00E1ch zasa\u017Een\u00FDch demenc\u00ED m\u016F\u017Ee b\u00FDt do budoucna d\u016Fle\u017Eit\u00E9 p\u0159edev\u0161\u00EDm pro mo\u017Enost v\u010Dasn\u00E9 l\u00E9\u010Dby pacient\u016F v riziku." . . "Ratajov\u00E1, L." . . . . "7"^^ . "5" . . . . "CZ - \u010Cesk\u00E1 republika" . "Heredit\u00E1rn\u00ED \u010Dasn\u00E1 forma Alzheimerovy nemoci v d\u016Fsledku z\u00E1rode\u010Dn\u00E9 mutace p.M139V v genu PSEN1 - kazuistika"@cs . . "V" . "Alzheimerova demence je nej\u010Dast\u011Bj\u0161\u00ED demence u pacient\u016F ve star\u0161\u00EDm v\u011Bku. V n\u011Bkter\u00FDch rodin\u00E1ch m\u016F\u017Ee b\u00FDt geneticky podm\u00EDn\u011Bna. Na\u0161e kazuistika ukazuje p\u0159\u00EDpad 43let\u00E9ho mu\u017Ee, v jeho\u017E rodin\u011B se vyskytlo dal\u0161\u00EDch \u0161est \u010Dlen\u016F rodiny s manifestac\u00ED demence ve v\u011Bku 40\u201350 let. Genetick\u00FDm vy\u0161et\u0159en\u00EDm byla u pacienta prok\u00E1z\u00E1na patogenn\u00ED mutace c.415A>G (p.M139V) v exonu 5 genu PSEN1 v heterozygotn\u00EDm stavu. Stejn\u00E1 mutace byla zji\u0161t\u011Bna u demenc\u00ED posti\u017Een\u00E9ho bratrance. V rodin\u011B tak byla potvrzena heredit\u00E1rn\u00ED predispozice k \u010Dasn\u00E9 form\u011B Alzheimerovy demence s autozom\u00E1ln\u011B dominantn\u00ED d\u011Bdi\u010Dnost\u00ED na molekul\u00E1rn\u00ED \u00FArovni. V\u00FDvoj onemocn\u011Bn\u00ED byl u pacienta sledov\u00E1n po dobu osmi let. Postupn\u011B doch\u00E1z\u00ED k deterioraci kognitivn\u00EDch funkc\u00ED a v\u00FDvoji atrofick\u00FDch zm\u011Bn mozku dle magnetick\u00E9 rezonance. Obdobn\u00E9 zm\u011Bny jsou pozorov\u00E1ny u jeho bratrance. Genetick\u00E9 vy\u0161et\u0159ov\u00E1n\u00ED v rodin\u00E1ch zasa\u017Een\u00FDch demenc\u00ED m\u016F\u017Ee b\u00FDt do budoucna d\u016Fle\u017Eit\u00E9 p\u0159edev\u0161\u00EDm pro mo\u017Enost v\u010Dasn\u00E9 l\u00E9\u010Dby pacient\u016F v riziku."@cs . . . "Havelka, Jaroslav jr." . . "RIV/00843989:_____/11:00101884" . . "Alzheimer's dementia; hereditary disease; the PSEN1 gene; gene mutation"@en . "\u0160ilh\u00E1nov\u00E1, Eva" . "B\u00E1rtov\u00E1, Petra" . . . "Walczyskov\u00E1, Sylwia" . . . "74/107" . "\u0160koloud\u00EDk, David" . "Early-onset hereditary Alzheimer\u00B4s disease caused by p.M139V mutation in the PSEN1 gene - a case report"@en . "Plevov\u00E1, Pavl\u00EDna" . "\u010Cesk\u00E1 a slovensk\u00E1 neurologie a neurochirurgie" . "6"^^ . . "Heredit\u00E1rn\u00ED \u010Dasn\u00E1 forma Alzheimerovy nemoci v d\u016Fsledku z\u00E1rode\u010Dn\u00E9 mutace p.M139V v genu PSEN1 - kazuistika" . "000295020500010" . "Ressner, Pavel" . . "RIV/00843989:_____/11:00101884!RIV12-MZ0-00843989" . "Heredit\u00E1rn\u00ED \u010Dasn\u00E1 forma Alzheimerovy nemoci v d\u016Fsledku z\u00E1rode\u010Dn\u00E9 mutace p.M139V v genu PSEN1 - kazuistika"@cs . . "1210-7859" . . "8"^^ .