Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype : A case report
Copyright © 2024 Elsevier Ltd. All rights reserved..
We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:123 |
|---|---|
| Enthalten in: |
Parkinsonism & related disorders - 123(2024) vom: 20. März, Seite 106943 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Imarisio, Alberto [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
APTX |
|---|
| Anmerkungen: |
Date Revised 31.03.2024 published: Print-Electronic Citation Status Publisher |
|---|
| doi: |
10.1016/j.parkreldis.2024.106943 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM370453166 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM370453166 | ||
| 003 | DE-627 | ||
| 005 | 20240401233216.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240401s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.parkreldis.2024.106943 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1359.xml |
| 035 | |a (DE-627)NLM370453166 | ||
| 035 | |a (NLM)38555792 | ||
| 035 | |a (PII)S1353-8020(24)00955-6 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Imarisio, Alberto |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype |b A case report |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 31.03.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status Publisher | ||
| 520 | |a Copyright © 2024 Elsevier Ltd. All rights reserved. | ||
| 520 | |a We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype | ||
| 650 | 4 | |a Letter | |
| 650 | 4 | |a APTX | |
| 650 | 4 | |a Aprataxin | |
| 650 | 4 | |a Multiple system atrophy | |
| 650 | 4 | |a Oculomotor apraxia | |
| 650 | 4 | |a Parkinsonism | |
| 700 | 1 | |a Pilotto, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Lupini, Alessandro |e verfasserin |4 aut | |
| 700 | 1 | |a Biasiotto, Giorgio |e verfasserin |4 aut | |
| 700 | 1 | |a Zanella, Isabella |e verfasserin |4 aut | |
| 700 | 1 | |a Currò, Riccardo |e verfasserin |4 aut | |
| 700 | 1 | |a Vegezzi, Elisa |e verfasserin |4 aut | |
| 700 | 1 | |a Cortese, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Palmieri, Ilaria |e verfasserin |4 aut | |
| 700 | 1 | |a Valente, Enza Maria |e verfasserin |4 aut | |
| 700 | 1 | |a Padovani, Alessandro |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Parkinsonism & related disorders |d 1995 |g 123(2024) vom: 20. März, Seite 106943 |w (DE-627)NLM094552002 |x 1873-5126 |7 nnns |
| 773 | 1 | 8 | |g volume:123 |g year:2024 |g day:20 |g month:03 |g pages:106943 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.parkreldis.2024.106943 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 123 |j 2024 |b 20 |c 03 |h 106943 | ||