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Cracking the code-ing sequence for Parkinson’s disease

Jansen, I.E.

2017

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Jansen, I. E. (2017). Cracking the code-ing sequence for Parkinson’s disease.

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ADDENDUM

Nederlandse samenvatting

Addendum

A

ŝŶĚĞŐĞnjŽŶĚĞŝŶĚŝǀŝĚƵĞŶ͘ĞnjĞƌĞƐƵůƚĂƚĞŶƐƵŐŐĞƌĞƌĞŶĚĂƚCHCHD2 ĞĞŶnjĞůĚnjĂŵĞƌŝƐŝĐŽ ĨĂĐƚŽƌŬĂŶnjŝũŶŝŶĚĞƵƌŽƉĞƐĞƉŽƉƵůĂƟĞ͘hŝƚŐĞďƌĞŝĚƐĞƋƵĞŶĐŝŶŐŽŶĚĞƌnjŽĞŬǀĂŶĚŝƚŐĞŶ in grotere Europese datasets moet echter in de toekomst meer duidelijkheid scheppen.

Ğ ŐĞŶĞƟƐĐŚĞ ůŝƚĞƌĂƚƵƵƌ ǀĂŶ ĚĞ ǀW ŚĞĞŌ ŶĂĂƐƚ ĚĞ ŵŽŶŽͲŐĞŶĞƟƐĐŚĞ ǀŽƌŵĞŶ ǀĂŶ WĂƌŬŝŶƐŽŶ ŽŽŬ ŵĞĞƌ ĚĂŶ ϮϬ ͚ĐŽŵŵŽŶ͛ ůŽĐŝ ŐĞŢĚĞŶƟĮĐĞĞƌĚ ĚŝĞ ŚĞƚ ƌŝƐŝĐŽ ǀĞƌŚŽŐĞŶ ŽŵƐƉŽƌĂĚŝƐĐŚĞWĂƌŬŝŶƐŽŶƚĞŬƌŝũŐĞŶ͘ŽŽƌĚĞnjĞůĨĚĞ/W'ĞdžŽŵĞĚĂƚĂƐĞƚƐƚĞĂŶĂůLJƐĞƌĞŶ͕ hebben we in hoofdstuk 3 ŐĞƚĞƐƚŽĨnjĞůĚnjĂŵĞĐŽĚĞƌĞŶĚĞǀĂƌŝĂŶƚĞŶĚŝĞďŝŶŶĞŶĚĞ͚ĐŽŵŵŽŶ͛ ůŽĐŝǀĂůůĞŶ͕ŽŽŬĞĞŶŝŶǀůŽĞĚŚĞďďĞŶŽƉŚĞƚWĂƌŬŝŶƐŽŶƌŝƐŝĐŽ͘sŽŽƌŚĞƚŽŶĚĞƌnjŽĞŬĞŶǀĂŶ ŝŶĚŝǀŝĚƵĞůĞnjĞůĚnjĂŵĞǀĂƌŝĂŶƚĞŶŝƐŚĞƚŶŽĚŝŐŽŵĚĂƚĂƐĞƚƐŵĞƚƟĞŶĚƵŝnjĞŶĚĞŶƉĞƌƐŽŶĞŶƚĞ ĂŶĂůLJƐĞƌĞŶŽŵǀŽůĚŽĞŶĚĞƐƚĂƟƐƟƐĐŚĞ͚ƉŽǁĞƌ͛ƚĞďĞŚĂůĞŶǀŽŽƌŚĞƚĚĞƚĞĐƚĞƌĞŶǀĂŶĞĞŶ ĂƐƐŽĐŝĂƟĞƐŝŐŶĂĂů͘KŵĚĞŬĂŶƐǀŽŽƌĞĞŶnjĞůĚnjĂŵĞǀĂƌŝĂŶƚĂƐƐŽĐŝĂƟĞƚĞǀĞƌŚŽŐĞŶƚĞƌǁŝũů ŚĞƚĂĂŶƚĂůŐĞƚĞƐƚĞƉĞƌƐŽŶĞŶŐĞůŝũŬďůŝũŌ͕njŝũŶĚĞǀĂƌŝĂŶƚĞŶƉĞƌŐĞŶŽĨŐĞŶͲƐĞƚ;ďĞƐƚĂĂŶĚĞ ƵŝƚůŝƚĞƌĂƚƵƵƌͲŐĞďĂƐĞĞƌĚĞWĂƌŬŝŶƐŽŶůŽĐŝͿŐĞĂŐŐƌĞŐĞĞƌĚŽŵŚĞƚŐĞnjĂŵĞŶůŝũŬĞĞīĞĐƚŽƉĚĞ ǀWƚĞƚĞƐƚĞŶ͘ĞůŝƚĞƌĂƚƵƵƌŐĞďĂƐĞĞƌĚĞůŽĐŝƌĞƉƌĞƐĞŶƚĞƌĞŶĚŽŽƌŐĂĂŶƐĞĞŶŐĞĂƐƐŽĐŝĞĞƌĚ ŐĞďŝĞĚĚŝĞŵĞĞƌĚĞƌĞŐĞŶĞŶďĞǀĂƚ͕ǁĂĂƌďŝũĚĞůŽĐĂƟĞǀĂŶĚĞǁĞƌŬĞůŝũŬĞĐĂƵƐĂůĞǀĂƌŝĂŶƚ ;ĞŶ ŚĞƚ ŐĞƌĞůĂƚĞĞƌĚĞ ŐĞŶͿ ŽŶďĞŬĞŶĚ ŝƐ͘ Kŵ ŚĞƚ ŵĞĞƐƚ ǁĂĂƌƐĐŚŝũŶůŝũŬĞ ĐĂƵƐĂůĞ ŐĞŶ ƉĞƌ ůŽĐƵƐƚĞƐĞůĞĐƚĞƌĞŶ͕ŚĞďďĞŶǁĞŐĞďƌƵŝŬŐĞŵĂĂŬƚǀĂŶWƌŝdž&ŝdžĞ͗ĞĞŶĂůŐŽƌŝƚŵĞŐĞďĂƐĞĞƌĚŽƉ ŽŶĚĞƌůŝŐŐĞŶĚĞĨƵŶĐƟŽŶĞůĞŽǀĞƌĞĞŶŬŽŵƐƚĞŶƚƵƐƐĞŶĚĞŐĞŶĞŶǀĂŶǀĞƌƐĐŚŝůůĞŶĚĞůŽĐŝ͘KŶnjĞ ĂŶĂůLJƐĞƐďĞǀĞƐƟŐĚĞŶĚĞďĞƚƌŽŬŬĞŶŚĞŝĚǀĂŶŚĞƚďĞŬĞŶĚĞWĂƌŬŝŶƐŽŶŐĞŶLRRK2ǀŽŽƌnjŽǁĞů ͚ĐŽŵŵŽŶ͛ ĂůƐ njĞůĚnjĂŵĞ ǀĂƌŝĂŶƚ ĂƐƐŽĐŝĂƟĞƐ͘ sĞƌĚĞƌ ůĂƚĞŶ ĚĞ ŐĞŶĞŶ STBD1 en SPATA19 ŽŽŬ ĂƐƐŽĐŝĂƟĞƐ njŝĞŶ ŵĞƚ ĚĞ ǀW ŝŶ ĚĞ /W' ĞdžŽŵĞ ƐĞƋƵĞŶĐŝŶŐ ĞŶ EĞƵƌŽy ĚĂƚĂƐĞƚƐ͘ ŽĂůƐǀĞƌǁĂĐŚƚ͕ǁĞƌĚĞŶĞƌďŝũĚĞŐĞŶͲƐĞƚĂŶĂůLJƐĞƐĞĞŶŐĞnjĂŵĞŶůŝũŬĞīĞĐƚǀĂŶ͚ĐŽŵŵŽŶ͛ ǀĂƌŝĂŶƚĞŶŐĞĚĞƚĞĐƚĞĞƌĚ͕ŵĂĂƌŽŶƚďƌĂŬĞĞŶŐĞnjĂŵĞŶůŝũŬĞīĞĐƚǀĂŶnjĞůĚnjĂŵĞǀĂƌŝĂŶƚĞŶ͘,Ğƚ ŝƐĐŽŵƉůĞdžƚĞĐŽŶĐůƵĚĞƌĞŶŽĨĚĞĂĨǁĞnjŝŐŚĞŝĚǀĂŶĞĞŶnjĞůĚnjĂŵĞǀĂƌŝĂŶƚŐĞŶͲƐĞƚĂƐƐŽĐŝĂƟĞ ŚĞƚŐĞǀŽůŐŝƐǀĂŶĞĞŶĞǀĞŶƚƵĞůĞŽŶũƵŝƐƚĞƐĞůĞĐƟĞǀĂŶĐĂƵƐĂůĞŐĞŶĞŶĚŽŽƌWƌŝdž&ŝdžĞ͕ŽĨĚĂƚ njĞůĚnjĂŵĞǀĂƌŝĂŶƚĞŶďŝŶŶĞŶĚĞďĞŬĞŶĚĞ͚ĐŽŵŵŽŶ͛ƌŝƐŝĐŽĨĂĐƚŽƌĞŶǁĞƌŬĞůŝũŬŶŝĞƚďŝũĚƌĂŐĞŶ ĂĂŶ ĚĞ ĞƟŽůŽŐŝĞ ǀĂŶ ĚĞ ǀW͘ ŝƚ ŚŽŽĨĚƐƚƵŬ ďĞŶĂĚƌƵŬƚ ĚĂŶ ŽŽŬ ŚĞƚ ŐĞďƌĞŬ ĂĂŶ ŶƵƫŐĞ ĨƵŶĐƟŽŶĞůĞƉƌŝŽƌŝnjĂƟĞŵĞƚŚŽĚĞƐ͕ĚŝĞƚŽĞƌĞŝŬĞŶĚŬƵŶŶĞŶnjŝũŶŝŶŚĞƚďĞŶŽĞŵĞŶǀĂŶĐĂƵƐĂůĞ ŐĞŶĞŶďŝŶŶĞŶ͚ĐŽŵŵŽŶ͛ŐĞŶĞƟƐĐŚĞĨĂĐƚŽƌĞŶƚĞƌǁŝũůnjĞĚĞďŝŽůŽŐŝƐĐŚĞĞŝŐĞŶƐĐŚĂƉƉĞŶǀĂŶ ĚĞnjŝĞŬƚĞŝŶŽǀĞƌǁĞŐŝŶŐŶĞŵĞŶ͘ ĞǀŽůŐĞŶĚĞƐƚĂƉŽŵǀĂƩĞĚĞnjŽĞŬƚŽĐŚƚŶĂĂƌŶŝĞƵǁĞŐĞŶĞƟƐĐŚĞĨĂĐƚŽƌĞŶĚŽŽƌƚĞ ĨŽĐƵƐƐĞŶŽƉŐƌŽĞƉĞŶǀĂŶŐĞŶĞŶĚŝĞĞĞŶĨƵŶĐƟŽŶĞůĞĞŝŐĞŶƐĐŚĂƉŚĞďďĞŶĚŝĞŐĞƌĞůĂƚĞĞƌĚ ŝƐĂĂŶĚĞǀW͘,ĞƚŐĞŶGBA ĨƵŶĐƟŽŶĞĞƌƚŝŶŚĞƚůLJƐŽƐŽŵĂůĞƐLJƐƚĞĞŵĞŶŵƵƚĂƟĞƐŵĞƚĞĞŶ ĂƵƚŽƐŽŵĂůĞƌĞĐĞƐƐŝĞǀĞŽǀĞƌĞƌǀŝŶŐƐƉĂƚƌŽŽŶnjŝũŶŐĞŽďƐĞƌǀĞĞƌĚŝŶĨĂŵŝůŝĞƐŵĞƚĚĞnjŝĞŬƚĞǀĂŶ 'ĂƵĐŚĞƌ͕ǁĞůŬĞĞĞŶnjĞůĚnjĂŵĞůLJƐŽƐŽŵĂůĞƐƚĂƉĞůŝŶŐƐnjŝĞŬƚĞŝƐ;>^Ϳ͘,ĞƚĞƌŽnjLJŐŽƚĞǀĂƌŝĂŶƚĞŶ in GBA njŝũŶ ĚĂĂƌŶĂĂƐƚ ŽŽŬ ŐĞŢĚĞŶƟĮĐĞĞƌĚ ĂůƐ ƐƚĞƌŬĞ ƌŝƐŝĐŽ ĨĂĐƚŽƌĞŶ ǀŽŽƌ ĚĞ ǀW͘ EĂĂƐƚ

GBA njŝũŶĞƌϱϯĂŶĚĞƌĞŐĞŶĞŶĚŝĞŐĞĂƐƐŽĐŝĞĞƌĚnjŝũŶŵĞƚ>^͘/Ŷhoofdstuk 4 hebben we

Addendum

A

ƌĞĂĐƟĞǀĞnjƵƵƌƐƚŽĨĚĞĞůƚũĞƐ͘KŶnjĞƌĞƐƵůƚĂƚĞŶƐƵŐŐĞƌĞƌĞŶĚĂƚĚĞƌĞŐƵůĂƟĞǀĂŶĚŝƚƐƉĞĐŝĮĞŬĞ ƉƌŽĐĞƐĂĂŶŐĞĚĂĂŶŝƐŝŶĚĞǀW͘&ƵŶĐƟŽŶĞĞůŽŶĚĞƌnjŽĞŬǀĂŶŵŝƚŽĐŚŽŶĚƌŝĂůĞĐŽŵƉůĞdž/ŝŶŚĞƚ ůĂďŽƌĂƚŽƌŝƵŵŵŽĞƚĚĞƉƌĞĐŝĞnjĞůŝŶŬŵĞƚĚĞǀWŽŶƚŚƵůůĞŶ͘

A

E<tKKZ

,ĞƚǀŽůďƌĞŶŐĞŶǀĂŶĚŝƚƉƌŽĞĨƐĐŚƌŝŌŚĞĞŌĞĞŶŐƌŽƚĞƌĞŝŵƉĂĐƚŽƉŵĞŐĞŚĂĚĚĂŶŝŬǀĂŶƚĞ ǀŽƌĞŶǀŽŽƌŵŽŐĞůŝũŬŚĂĚŐĞŚŽƵĚĞŶ͘ƌnjŝũŶǀĞĞůĨĂŶƚĂƐƟƐĐŚĞŚĞƌŝŶĞƌŝŶŐĞŶĂĂŶǀĞƌďŽŶĚĞŶ͕ ŵĂĂƌŶĂƚƵƵƌůŝũŬŽŽŬŵŽĞŝůŝũŬĞƌĞŵŽŵĞŶƚĞŶ͘,ŽĞĚĂŶŽŽŬ͕njŽŶĚĞƌĚĞŵĞŶƐĞŶĚŝĞŝŬďŝũ ĚĞnjĞnjŽƵǁŝůůĞŶďĞĚĂŶŬĞŶ͕ǁĂƐŚĞƚnjĞŬĞƌŶŝĞƚŐĞůƵŬƚ͊ ůůĞƌĞĞƌƐƚ͕ŶĂƚƵƵƌůŝũŬŵŝũŶƉƌŽŵŽƚŽƌWĞƚĞƌ,ĞƵƟŶŬ͘ĞĚĂŶŬƚǀŽŽƌĚĞǀƌŝũŚĞŝĚĚŝĞ ũĞŵĞŚĞďƚŐĞŐĞǀĞŶďŝũĚĞŽŶǁŝŬŬĞůŝŶŐŶĂĂƌĞĞŶnjĞůĨƐƚĂŶĚŝŐŽŶĚĞƌnjŽĞŬĞƌ͘/ŬŚĞďĂůƟũĚŚĞƚ ŝĚĞĞŐĞŚĂĚĚĂƚĂůůĞƐŵŽŐĞůŝũŬǁĂƐ͕ŵŝƚƐŐŽĞĚŽŶĚĞƌďŽƵǁƚ͘ĞŽŶĚĞƌnjŽĞŬĞƌĚŝĞŝŬŶƵďĞŶ ŝƐĚĂŶŽŽŬŚĞƚƌĞƐƵůƚĂĂƚǀĂŶĞĞŶŵĞŶƚŽƌĚŝĞŶĂĂƐƚŵĞŚĞĞŌŐĞƐƚĂĂŶĞŶŵĞĚĞŚĂŶĚǀĂƚĞŶ ŚĞĞŌĂĂŶŐĞƌĞŝŬƚŽŵƚĞŐƌŽĞŝĞŶ͕ŶŝĞƚĞĞŶƉƌŽŵŽƚŽƌĚŝĞǀĂŶďŽǀĞŶĂĨŵĞŐĞƉƌŽďĞĞƌĚŚĞĞŌ ƚĞǀŽƌŵĞŶ͘tĞůůŝĐŚƚŚĂĚũĞŝĞƚƐŵŝŶĚĞƌŶƵĐŚƚĞƌŚĞŝĚǁŝůůĞŶnjŝĞŶ͕ŵĂĂƌŝŬŚĞďnjĞůĨƐŚĞƚŝĚĞĞ dat ik ondertussen mijn wetenschappelijke enthousiasme kan overbrengen. Het is jammer ĚĂƚǁĞŶŝĞƚŵĞĞƌƐĂŵĞŶǁĞƌŬĞŶ͕ŵĂĂƌũĞǁĞĞƚŶŽŽŝƚǁĂƚĚĞƚŽĞŬŽŵƐƚďƌĞŶŐƚ͊

KŽŬ ďĞĚĂŶŬ ŝŬ ĚĞ ůĞĚĞŶ ǀĂŶ ĚĞ ůĞĞƐĐŽŵŵŝƐƐŝĞ͗ WƌŽĨ͘ :͘,͘ sĞůĚŝŶŬ͕ WƌŽĨ͘ ͘ Posthuma, Prof. J.J. van Hilten, Prof. W.D.J. van de Berg en Prof. A.B. Smit. Ik waardeer ŚĞƚnjĞĞƌĚĂƚũƵůůŝĞĚĞƟũĚŝŶũƵůůŝĞŽǀĞƌǀŽůůĞĂŐĞŶĚĂ͛ƐŚĞďďĞŶǁĞƚĞŶƚĞǀŝŶĚĞŶŽŵŵŝũŶ ƉƌŽĞĨƐĐŚƌŝŌƚĞůĞnjĞŶĞŶŵĞƚŽĞƐƚĂĂŶĚĞnjĞǀŽŽƌũƵůůŝĞƚĞǀĞƌĚĞĚŝŐĞŶ͘/ŬŬŝũŬĞƌŐƵŝƚŶĂĂƌŽŶnjĞ ĚŝƐĐƵƐƐŝĞƐ͊ŶĚWƌŽĨ͘d͘'ĂƐƐĞƌ͕/ŐƌĞĂƚůLJĂƉƉƌĞĐŝĂƚĞƚŚĂƚLJŽƵŇLJŝŶƚŽũŽŝŶƚŚĞĚŝƐĐƵƐƐŝŽŶŽŶ my thesis, thank you.

Addendum

A

ĨĞĞĚďĂĐŬĂŶĚƐƵƉƉŽƌƚ͊ŶĚũƵƐƚĂƐŝŵƉŽƌƚĂŶƚ͕ƚŚĂŶŬLJŽƵĨŽƌƚŚĞŝĞƌŐĂƌƚĞŶŵŽŵĞŶƚƐƚŚĂƚ ǁĞƌĞĂŐŽŽĚĚŝƐƚƌĂĐƟŽŶĨƌŽŵƚŚĞƐƉŽƌĂĚŝĐǁŽƌŬͲƌĞůĂƚĞĚƐƚƌĞƐƐ͘ DŝũŶ ĞƌǀĂƌĞŶ ƉĂƌĂŶŝŵĨĞŶ ^ĂƐũĂ ĞŶ ŶŬĞ͕ ŝŬ ďĞŶ ƐƵƉĞƌďůŝũ ĚĂƚ Ğƌ njƵůŬĞ ůŝĞǀĞ ǀƌŝĞŶĚŝŶŶĞƚũĞƐŵĞďŝũnjƵůůĞŶƐƚĂĂŶďŝũŵŝƐƐĐŚŝĞŶƚŽĐŚǁĞůŚĞƚŵĞĞƐƚƐƉĂŶŶĞŶĚĞŵŽŵĞŶƚ ŝŶ ŵŝũŶ ůĞǀĞŶ͘ :ƵůůŝĞ njŝũŶ Ğƌ ĂůƟũĚ ǀŽŽƌ ŵĞ ŐĞǁĞĞƐƚ Žŵ ŵŝũŶ ǀĞƌŚĂůĞŶ ĂĂŶ ƚĞ ŚŽƌĞŶ͕ ŽĨ ŚĞƚŶƵĞŶƚŚŽƵƐŝĂƐƚĞŽǀĞƌǁŝŶŶŝŶŐĞŶǁĂƌĞŶŽĨŶĞŐĂƟĞǀĞnjŽƌŐĞŶ͘Ŷ^ĂƐ͕ǁĂƚŚĞďŝŬŚĞƚ ŚĞĞƌůŝũŬ ŵĞƚ ũĞ ŝŶ dƺďŝŶŐĞŶ ŐĞŚĂĚ͘ sƌĞĞŵĚ ŐĞŶŽĞŐ njŝũŶ ǁĞ ƉĂƐ ŝŶ dƵďŝ ĚŝŬŬĞ ǀƌŝĞŶĚĞŶ ŐĞǁŽƌĚĞŶ͕ŵĂĂƌǁĂƚďĞŶŝŬďůŝũĚĂƚũĞŽŽŬǁĞĞƌŝŶ͛ĚĂŵnjŝƚ͊ŶŬŝĞ͕ŽŽŬĂůǁĂƐũĞŶŝĞƚŵŝũŶ ĚĂŐĞůŝũŬƐƚĞƵŝƚůĂĂƚŬůĞƉŝŶdƺďŝŶŐĞŶ͕ƚŽĐŚŚĞďŝŬŶŽŽŝƚŚĞƚŝĚĞĞŐĞŚĂĚĚĂƚũĞǀĞƌǁĞŐǁĂƐ͘ ,ĞƚnjĂůĚĂŶŽŽŬǁĞůŐĞŚŽůƉĞŶŚĞďďĞŶĚĂƚũĞĞĞŶǀĂŶĚĞĨƌĞƋƵĞŶƐƚĞďĞnjŽĞŬƐƚĞƌƐǁĂƐǀĂŶ ĚĞ'ŽůĚĞƌƐďĂĐŚƐƚƌĂƐƐĞ͕ƐĂŵĞŶŵĞƚĚĞĨƌŝƐƐĞƉŽƐŝƟǀŝƚĞŝƚƐǁŝŶĚdŝŵ͊,ĞďŝŬǀĂŶŐĞŶŽƚĞŶ͘ ŶůĂĂƚŝŬ͚ŐĞĞƐƚ͛ƉĂƌĂŶŝŵĨŽƌŽŽŬǀŽŽƌĂůŶŝĞƚǀĞƌŐĞƚĞŶ͘ůƐũĞŶŽƵŶŝĞƚŚĞůĞŵĂĂůĂĂŶĚĞ andere kant van de oceaan was gaan wonen had ik mijn verdeding graag met je willen ĚĞůĞŶ͘ůƐǁĞƌŬďƵƵƌŵĂŶĞŶƉĂƌƚLJĨƌŝĞŶĚŚĞďďĞŶǁĞǀĞĞůŵĞĞŐĞŵĂĂŬƚ͕ŝŬnjĂůũĞŵŝƐƐĞŶ ǀĂŶĚĂĂŐ͊

KŽŬnjŽƵŝŬŐƌĂĂŐŵŝũŶǀƌŝĞŶĚŝŶŶĞŶĂƉŚŶĞ͕EŝŬŬŝ͕^ĂƐŚĂ͕ƐƚĞůůĞ͕ŚĂƌůLJŶŶ͕ŶŶĂ (maar ook wetenschap gerelateerde Anke, Sasja en Margharita) willen bedanken waarmee ik af en toe juist niet over wetenschap hoefde te praten. Lekker verstand op nul, wijntje erbij en babbelen is wellicht nog wel het beste remedie om je hoofd leeg te krijgen om vervolgens weer met frisse energie verder te gaan. En lief dat jullie me allemaal trouw in dƺďŝŶŐĞŶďĞnjŽĐŚƚŚĞďďĞŶ͘

KǀĞƌ ƚƌŽƵǁĞ dƵďŝŶŐĞŶ ďĞnjŽĞŬĞƌƐ ŐĞƐƉƌŽŬĞŶ͕ ŝŬ ŚĞď ĚĞ ŵĞĞƐƚ ĨĂŶƚĂƐƟƐĐŚĞ ŽŶĚĞƌƐƚĞƵŶĞŶĚĞĨĂŵŝůŝĞĚŝĞĂůƟũĚǀŽŽƌŵĞŬůĂĂƌƐƚĂĂƚ͊/ǀĂƌĞŶ^ǁĞƩĂ͕ďĞĚĂŶŬƚĚĂƚũƵůůŝĞ ƐƚĞĞǀĂƐƚŚĞƚďĞƐƚĞǀŽŽƌŵĞǁŝůůĞŶĞŶŵĞĚĞǁĞƌĞůĚŐƵŶŶĞŶ͘/ŬŚŽƵĚǀĂŶŽŶnjĞĚŝƐĐƵƐƐŝĞƐ die me met beide benen op de grond doen laten staan. Paps en mams, bedankt voor alle ŵĞŶƚĂůĞĞŶƉƌĂŬƟƐĐŚĞŚƵůƉĚŝĞũƵůůŝĞŵĞĚĞĂĨŐĞůŽƉĞŶϱũĂĂƌǀĞƌůĞĞŶĚŚĞďďĞŶ͘EŝĞƚƚĞ vergeten de 3 maanden die ik weer bij jullie ben ingetrokken in de periode tussen mijn ƉƌŽŵŽƟĞŽŶĚĞƌnjŽĞŬĞŶŶŝĞƵǁĞďĂĂŶ͘DŝũŶŽƵĚĞƌůŝũŬĞŚƵŝƐŝƐŶŽŐƐƚĞĞĚƐŽŽŬ͚ŵŝũŶƚŚƵŝƐ͛ ǀŽŽƌŵŝũĞŶŚĞƚŝƐĮũŶƚĞǁĞƚĞŶĚĂƚŝŬĂůƟũĚĞĞŶƐƚĂďŝĞůĞůŝĞĨĚĞǀŽůůĞďĂƐŝƐŚĞďǁĂĂƌŝŬŽƉ terug kan vallen.

A

Wh>/d/KE^

Jansen IE͕ZŽďĂŬ>^͕ǀĂŶZŽŽŝũ:͕hŝƩĞƌůŝŶĚĞŶ'͕<ƌĂĂŝũZ͕:ĂŶŬŽǀŝĐ:͕/W'͕,ĞƵƟŶŬW͕

^ŚƵůŵĂŶ:D͘;ϮϬϭϳͿ͘džĐĞƐƐŝǀĞďƵƌĚĞŶŽĨůLJƐŽƐŽŵĂůƐƚŽƌĂŐĞĚŝƐŽƌĚĞƌŐĞŶĞǀĂƌŝĂŶƚƐŝŶ Parkinson’s disease. Annals of Neurology,ƐƵďŵŝƩĞĚ͘

Witoelar A, Jansen IE͕ tĂŶŐ z͕ ĞƐŝŬĂŶ Z^͕ 'ŝďďƐ :Z͕ ůĂƵǁĞŶĚƌĂĂƚ ͕ dŚŽŵƉƐŽŶ t<͕ ,ĞƌŶĂŶĚĞnj'͕ũƵƌŽǀŝĐ^͕^ĐŚŽƌŬ:͕ĞƩĞůůĂ&͕ůůŝŶŐŚĂƵƐ͕&ƌĂŶŬĞ͕>ŝĞ͕DĐǀŽLJ ><͕<ĂƌůƐĞŶd,͕>ĞƐĂŐĞ^͕DŽƌƌŝƐ,͕ƌŝĐĞ͕tŽŽĚE͕,ĞƵƟŶŬW͕,ĂƌĚLJ:ĨŽƌƚŚĞh< /ŶǀĞƐƟŐĂƚŽƌƐ͕^ŝŶŐůĞƚŽŶĨŽƌƚŚĞ/W'ĂŶĚE/ŶǀĞƐƟŐĂƚŽƌƐ͕ĂůĞD͕'ĂƐƐĞƌ d͕ŶĚƌĞĂƐƐĞŶK͕^ŚĂƌŵĂD;ϮϬϭϳͿ͘'ĞŶŽŵĞͲǁŝĚĞƉůĞŝŽƚƌŽƉLJďĞƚǁĞĞŶWĂƌŬŝŶƐŽŶ͛Ɛ disease and autoimmune diseases. JAMA Neurology, accepted.

Jansen IE͕zĞ,͕,ĞĞƚǀĞůĚ^͕>ĞĐŚůĞƌD͕DŝĐŚĞůƐ,͕^ĞŝŶƐƚƌĂZ/͕>ƵďďĞ^:͕ƌŽƵĞƚs͕>ĞƐĂŐĞ ^͕DĂũŽƵŶŝĞ͕'ŝďďƐ:Z͕EĂůůƐD͕ZLJƚĞŶD͕ŽƟĂ:͕sĂŶĚƌŽǀĐŽǀĂ:͕^ŝŵŽŶͲ^ĂŶĐŚĞnj :͕ĂƐƟůůŽͲ>ŝnjĂƌĚŽD͕ZŝnjnjƵW͕ůĂƵǁĞŶĚƌĂĂƚ͕ŚŽƵŚĂŶ<͕>ŝz͕zŽŐŝW͕ŵŝŶE͕ǀĂŶ ƵŝũŶ D͕ /ŶƚĞƌŶĂƟŽŶĂů WĂƌŬŝŶƐŽŶ͛Ɛ ŝƐĞĂƐĞ 'ĞŶĞƟĐƐ ŽŶƐŽƌƟƵŵ ;/W'Ϳ͕ DŽƌƌŝƐ ,Z͕ƌŝĐĞ͕^ŝŶŐůĞƚŽŶ͕ĂǀŝĚ͕EŽůůĞŶ͕:ĂŝŶ^͕^ŚƵůŵĂŶ:D͕,ĞƵƟŶŬW;ϮϬϭϳͿ͘ ŝƐĐŽǀĞƌLJĂŶĚĨƵŶĐƟŽŶĂůƉƌŝŽƌŝnjĂƟŽŶŽĨWĂƌŬŝŶƐŽŶ͛ƐĚŝƐĞĂƐĞĐĂŶĚŝĚĂƚĞŐĞŶĞƐĨƌŽŵ ůĂƌŐĞͲƐĐĂůĞǁŚŽůĞĞdžŽŵĞƐĞƋƵĞŶĐŝŶŐ͘Genome Biology, 18, 22. 'ŝƌŝ͕DŽŬ<z͕Jansen IE͕^ŚĂƌŵĂD͕dĞƐƐŽŶ͕DĂŶŐŽŶĞ'͕>ĞƐĂŐĞ^͕ƌĂƐ:D͕^ŚƵůŵĂŶ :D͕^ŚĞĞƌŝŶhD͕/ŶƚĞƌŶĂƟŽŶĂůWĂƌŬŝŶƐŽŶ͛ƐŝƐĞĂƐĞŽŶƐŽƌƟƵŵ;/W'Ϳ͕şĞnjͲ&ĂŝƌĞŶ D͕WĂƐƚŽƌW͕DĂƌơD:͕njƋƵĞƌƌĂD͕dŽůŽƐĂ͕ŽƌƌĞŝĂͲ'ƵĞĚĞƐ>͕&ĞƌƌĞŝƌĂ:͕ŵŝŶE͕ ǀĂŶƵŝũŶD͕ǀĂŶZŽŽŝũ:͕hŝƩĞƌůŝŶĚĞŶ'͕<ƌĂĂŝũZ͕EĂůůƐD͕^ŝŵſŶͲ^ĄŶĐŚĞnj:;ϮϬϭϲͿ͘ >ĂĐŬŽĨĞǀŝĚĞŶĐĞĨŽƌĂƌŽůĞŽĨŐĞŶĞƟĐǀĂƌŝĂƟŽŶŝŶdDDϮϯϬŝŶƚŚĞƌŝƐŬĨŽƌWĂƌŬŝŶƐŽŶ͛Ɛ ĚŝƐĞĂƐĞŝŶƚŚĞĂƵĐĂƐŝĂŶƉŽƉƵůĂƟŽŶ͘Neurobiology of Aging, 167, e11-167.

>ƵďďĞ^:͕ƐĐŽƩͲWƌŝĐĞs͕'ŝďďƐ:Z͕EĂůůƐD͕ƌĂƐ:͕WƌŝĐĞdZ͕EŝĐŽůĂƐ͕Jansen IE͕DŽŬ<z͕ WŝƩŵĂŶD͕dŽŵŬŝŶƐ:͕>ĞǁŝƐW͕EŽLJĐĞ:͕>ĞƐĂŐĞ^͕^ŚĂƌŵĂD͕^ĐŚŝīZ͕>ĞǀŝŶĞW͕ ƌŝĐĞ͕'ĂƐƐĞƌd͕,ĂƌĚLJ:͕,ĞƵƟŶŬW͕tŽŽĚEt͕^ŝŶŐůĞƚŽŶ͕tŝůůŝĂŵƐED͕DŽƌƌŝƐ,Z͖ ĨŽƌ/ŶƚĞƌŶĂƟŽŶĂůWĂƌŬŝŶƐŽŶ͛ƐŝƐĞĂƐĞ'ĞŶŽŵŝĐƐŽŶƐŽƌƟƵŵ͘;ϮϬϭϲͿ͘ĚĚŝƟŽŶĂůƌĂƌĞ ǀĂƌŝĂŶƚĂŶĂůLJƐŝƐŝŶWĂƌŬŝŶƐŽŶ͛ƐĚŝƐĞĂƐĞĐĂƐĞƐǁŝƚŚĂŶĚǁŝƚŚŽƵƚƉĂƚŚŽŐĞŶŝĐŵƵƚĂƟŽŶƐ͗ evidence for oligogenic inheritance. ,ƵŵĂŶDŽůĞĐƵůĂƌ'ĞŶĞƟĐƐ͕ddw348.

Addendum

A

'ĞŶŽŵĞDĞĚŝĐŝŶĞ͕ϴ͕65.

Blauwendraat C, Wilke C, Jansen IE͕ ^ĐŚƵůƚĞ ͕ ^ŝŵſŶͲ^ĄŶĐŚĞnj :͕ DĞƚnjŐĞƌ &'͕ ĞŶĚĞƌ ͕'ĂƐƐĞƌd͕DĂĞƚnjůĞƌt͕ZŝnjnjƵW͕,ĞƵƟŶŬW͕^LJŶŽĨnjŝŬD͘;ϮϬϭϲͿ͘WŝůŽƚǁŚŽůĞͲĞdžŽŵĞ ƐĞƋƵĞŶĐŝŶŐŽĨĂ'ĞƌŵĂŶĞĂƌůLJͲŽŶƐĞƚůnjŚĞŝŵĞƌ͛ƐĚŝƐĞĂƐĞĐŽŚŽƌƚƌĞǀĞĂůƐĂƐƵďƐƚĂŶƟĂů frequency of PSEN2 variants. Neurobiology of Aging, 37, e11-17.

Jansen IE͕ƌĂƐ:D͕>ĞƐĂŐĞ^͕^ĐŚƵůƚĞ͕'ŝďďƐ:Z͕EĂůůƐD͕ƌŝĐĞ͕tŽŽĚEt͕DŽƌƌŝƐ,͕

,ĂƌĚLJ:͕^ŝŶŐůĞƚŽŶ͕'ĂƐƐĞƌd͕,ĞƵƟŶŬW͕^ŚĂƌŵĂD͖/W' (2015). CHCHD2 and Parkinson’s disease. Lancet Neurology, ϭϰ͕678-679.

EŝĐŚŽůƐE͕ƌĂƐ:D͕,ĞƌŶĂŶĚĞnj'͕Jansen IE͕>ĞƐĂŐĞ^͕>ƵďďĞ^͕^ŝŶŐůĞƚŽŶ͖/ŶƚĞƌŶĂƟŽŶĂů WĂƌŬŝŶƐŽŶ͛ƐŝƐĞĂƐĞ'ĞŶŽŵŝĐƐŽŶƐŽƌƟƵŵ;ϮϬϭϱͿ͘/&ϰ'ϭŵƵƚĂƟŽŶƐĚŽŶŽƚĐĂƵƐĞ Parkinson’s disease. Neurobiology of Aging, 36, 2444.

EĂůůƐD͕ƌĂƐ:͕,ĞƌŶĂŶĚĞnj'͕<ĞůůĞƌD&͕DĂũŽƵŶŝĞ͕ZĞŶƚŽŶ͕^ĂĂĚD͕Jansen IE, 'ƵĞƌƌĞŝƌŽZ͕>ƵďďĞ^͕WůĂŐŶŽůs͕'ŝďďƐ:Z͕^ĐŚƵůƚĞ͕WĂŶŬƌĂƚnjE͕^ƵƚŚĞƌůĂŶĚD͕ĞƌƚƌĂŵ >͕>ŝůůD͕Ğ^ƚĞĨĂŶŽ>͕&ĂƌŽƵĚd͕ƌŝŬƐƐŽŶE͕dƵŶŐ:z͕ĚƐĂůů͕EŝĐŚŽůƐE͕ƌŽŽŬƐ:͕ ƌĞƉĂůůŝ ^͕ WůŝŶĞƌ ,͕ >ĞƚƐŽŶ ͕ ,ĞƵƟŶŬ W͕ DĂƌƟŶĞnj D͕ 'ĂƐƐĞƌ d͕ dƌĂLJŶŽƌ :͕ tŽŽĚ E͕ ,ĂƌĚLJ :͕ ^ŝŶŐůĞƚŽŶ ͖ /ŶƚĞƌŶĂƟŽŶĂů WĂƌŬŝŶƐŽŶ͛Ɛ ŝƐĞĂƐĞ 'ĞŶŽŵŝĐƐ ŽŶƐŽƌƟƵŵ ;/W'Ϳ͖͘ WĂƌŬŝŶƐŽŶ͛Ɛ ŝƐĞĂƐĞ ŵĞƚĂͲĂŶĂůLJƐŝƐ ĐŽŶƐŽƌƟƵŵ͘ ;ϮϬϭϱͿ͘ EĞƵƌŽy͕ Ă ĨĂƐƚ ĂŶĚĞĸĐŝĞŶƚŐĞŶŽƚLJƉŝŶŐƉůĂƞŽƌŵĨŽƌŝŶǀĞƐƟŐĂƟŽŶŽĨŶĞƵƌŽĚĞŐĞŶĞƌĂƟǀĞĚŝƐĞĂƐĞƐ͘

Neurobiology of Aging, 36, e7-12.

,ĞƵƟŶŬ W͕ Jansen IE͕ >LJŶĞƐ D͘ ;ϮϬϭϰͿ͘ ϵŽƌĨϳϮ͗ ĂďŶŽƌŵĂů ZE ĞdžƉƌĞƐƐŝŽŶ ŝƐ ƚŚĞ ŬĞLJ͘

A

Khdd,hd,KZ

Iris Elisabeth Jansen was born on November 12 1986 in Amsterdam. She grew up in a ĨĂŵŝůLJŽĨĮǀĞ;ŽŶĞŽůĚĞƌďƌŽƚŚĞƌ͕ŽŶĞLJŽƵŶŐĞƌƐŝƐƚĞƌͿŝŶDŝũĚƌĞĐŚƚ͕ǁŚĞƌĞƐŚĞĮŶŝƐŚĞĚŚĞƌ ƉƌĞͲƵŶŝǀĞƌƐŝƚLJĞĚƵĐĂƟŽŶŝŶϮϬϬϱ͘hŶĐĞƌƚĂŝŶǁŚĂƚĚŝƌĞĐƟŽŶƚŽƚĂŬĞ͕ďƵƚŝŶƐƉŝƌĞĚďLJĚƌĞĂŵƐ ŽĨďĞĐŽŵŝŶŐĂƉƌŽĨĞƐƐŝŽŶĂůĚĂŶĐĞƌ͕/ƌŝƐƐƚĂƌƚĞĚĂƉƌĞͲĞĚƵĐĂƟŽŶĨŽƌĞdžĞĐƵƟǀĞĚĂŶĐĞƌĂƚ ƚŚĞdŚĞĂƚĞƌƐĐŚŽŽůƚŽŐĞƚŚĞƌǁŝƚŚĂĂĐŚĞůŽƌŝŶWƐLJĐŚŽůŽŐLJĂƚƚŚĞsƌŝũĞhŶŝǀĞƌƐŝƚĞŝƚ;shͿ͘ ŌĞƌĂLJĞĂƌŽĨĞdžƚĞŶƐŝǀĞƚƌĂŝŶŝŶŐĂŶĚĂƵĚŝƟŽŶƐ͕ƐŚĞǁĂƐĂĐĐĞƉƚĞĚĂƚƚŚĞĚĂŶĐĞĂĐĂĚĞŵLJ in Tilburg. Early in her training she discovered that she favored academic growth over a ĐĂƌĞĞƌĂƐĂĚĂŶĐĞƌ͕ƐŽƐŚĞƌĞƚƵƌŶĞĚƚŽƚŚĞshƚŽĮŶŝƐŚƚŚĞƐĞĐŽŶĚĂŶĚƚŚŝƌĚLJĞĂƌŽĨŚĞƌ Psychology bachelor.

^Ɵůů ƵŶƐƵƌĞ ǁŚĂƚ ƚŽ ďĞĐŽŵĞ ŝŶ ůŝĨĞ͕ ďƵƚ ĐůĞĂƌůLJ ŝŶƚĞƌĞƐƚĞĚ ŝŶ ƚŽƉŝĐƐ ƌĞůĂƟŶŐ ƚŽ the biology of the brain, Iris chose the “Biological psychology” specialty in the third year. While being introduced to all the biological mysteries of the human brain, it was clear that /ƌŝƐǁĂƐǀĞƌLJĞŶƚŚƵƐŝĂƐƟĐƚŽůĞĂƌŶŵŽƌĞĂďŽƵƚŶĞƵƌŽƐĐŝĞŶĐĞƐ͕ĞƐƉĞĐŝĂůůLJŝŶƚŚĞĐŽŶƚĞdžƚ ŽĨŐĞŶĞƟĐƐ͘ůƚŚŽƵŐŚƐůŝŐŚƚůLJǁŽƌƌŝĞĚĂďŽƵƚƚŚĞůĂĐŬŽĨƐŽůŝĚďŝŽůŽŐŝĐĂůŬŶŽǁůĞĚŐĞ͕/ƌŝƐ ƐƚĂƌƚĞĚƚŚĞƚǁŽLJĞĂƌƌĞƐĞĂƌĐŚŵĂƐƚĞƌEĞƵƌŽƐĐŝĞŶĐĞƐĂƚƚŚĞshŝŶϮϬϬϵ͘^ŚĞŐŽƚĞdžƚƌĞŵĞůLJ ŵŽƟǀĂƚĞĚĂŶĚĞĂŐĞƌƚŽƵŶĚĞƌƐƚĂŶĚĂůůĂŶŐůĞƐŽĨŶĞƵƌŽƐĐŝĞŶĐĞƐƚŽďĞĂďůĞƚŽŵĂŬĞĂŐŽŽĚ ĐŚŽŝĐĞǁŚĂƚƚŽƐƉĞĐŝĂůŝnjĞŝŶ͘ ^Ɵůů͕ŝƚǁĞƌĞĞƐƉĞĐŝĂůůLJƚŚĞŐĞŶĞƟĐƐŽĨƚŚĞďƌĂŝŶƚŚĂƚŝŶƚƌŝŐƵĞĚ/ƌŝƐƚŚĞŵŽƐƚ͕ƚŚŝƐ ƌĞƐƵůƚĞĚŝŶĂϱͲŵŽŶƚŚŝŶƚĞƌŶƐŚŝƉĂƚƚŚĞĚĞƉĂƌƚŵĞŶƚŽĨDĞĚŝĐĂů'ĞŶŽŵŝĐƐŽĨƚŚĞshĂƚ ƚŚĞ ůĂď ŽĨ WƌŽĨ͘ WĞƚĞƌ ,ĞƵƟŶŬ͕ ǁŚĞƌĞ ƐŚĞ ǁŽƌŬĞĚ ŽŶ ƚŚĞ ĚŝƐĐŽǀĞƌLJ ŽĨ ŶŽǀĞů ŐĞŶĞƐ ĨŽƌ ĨƌŽŶƚŽƚĞŵƉŽƌĂů ĚĞŵĞŶƟĂ͘ ŌĞƌ ƚŚĞ ƐĞĐŽŶĚͲLJĞĂƌ ĐŽƵƌƐĞƐ͕ ǁŚŝĐŚ ĂůƐŽ ŝŶĐůƵĚĞĚ ƚŚĞ ŚŽŶŽƵƌƐͲĞdžĐŚĂŶŐĞƉƌŽŐƌĂŵĐŽƵƌƐĞƐĂƚƚŚĞƌĂƐŵƵƐhŶŝǀĞƌƐŝƚLJŝŶZŽƩĞƌĚĂŵ͕/ƌŝƐŵŽǀĞĚƚŽ tĂƐŚŝŶŐƚŽŶĨŽƌϳŵŽŶƚŚƐƚŽǁŽƌŬŽŶƚŚĞŐĞŶĞƟĐƐŽĨWĂƌŬŝŶƐŽŶ͛ƐĚŝƐĞĂƐĞŝŶƚŚĞůĂďŽĨ ƌ͘ŶĚLJ^ŝŶŐůĞƚŽŶĂƚƚŚĞEĂƟŽŶĂů/ŶƐƟƚƵƚĞŽĨ,ĞĂůƚŚ;E/,Ϳ͘ŌĞƌƐƵĐĐĞƐƐĨƵůůLJĞdžƉĂŶĚŝŶŐ her lab skills at the NIH, Iris graduated cum laude in January 2012.