Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:63 |
|---|---|
| Enthalten in: |
Internal medicine (Tokyo, Japan) - 63(2024), 6 vom: 15. März, Seite 861-865 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Yamaguchi-Takegami, Nanaka [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 19.03.2024 Date Revised 25.04.2024 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.2169/internalmedicine.1699-23 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM360580823 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM360580823 | ||
| 003 | DE-627 | ||
| 005 | 20240425232329.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.2169/internalmedicine.1699-23 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1386.xml |
| 035 | |a (DE-627)NLM360580823 | ||
| 035 | |a (NLM)37558486 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Yamaguchi-Takegami, Nanaka |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease |
| 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 Completed 19.03.2024 | ||
| 500 | |a Date Revised 25.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a GBA1 variant | |
| 650 | 4 | |a enzyme replacement therapy (ERT) | |
| 650 | 4 | |a epilepsy | |
| 650 | 4 | |a neurological symptoms | |
| 650 | 4 | |a neuronopathic gaucher disease | |
| 650 | 4 | |a parkinsonism | |
| 650 | 7 | |a Glucosylceramidase |2 NLM | |
| 650 | 7 | |a EC 3.2.1.45 |2 NLM | |
| 700 | 1 | |a Takahashi, Akiko |e verfasserin |4 aut | |
| 700 | 1 | |a Mitsui, Jun |e verfasserin |4 aut | |
| 700 | 1 | |a Sugiyama, Yusuke |e verfasserin |4 aut | |
| 700 | 1 | |a Chikada, Ayaka |e verfasserin |4 aut | |
| 700 | 1 | |a Porto, Kristine Joyce L |e verfasserin |4 aut | |
| 700 | 1 | |a Takegami, Naoki |e verfasserin |4 aut | |
| 700 | 1 | |a Sakuishi, Kaori |e verfasserin |4 aut | |
| 700 | 1 | |a Ishiura, Hiroyuki |e verfasserin |4 aut | |
| 700 | 1 | |a Yamada, Kaoru |e verfasserin |4 aut | |
| 700 | 1 | |a Shimizu, Jun |e verfasserin |4 aut | |
| 700 | 1 | |a Tsuji, Shoji |e verfasserin |4 aut | |
| 700 | 1 | |a Toda, Tatsushi |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Internal medicine (Tokyo, Japan) |d 1996 |g 63(2024), 6 vom: 15. März, Seite 861-865 |w (DE-627)NLM012606731 |x 1349-7235 |7 nnns |
| 773 | 1 | 8 | |g volume:63 |g year:2024 |g number:6 |g day:15 |g month:03 |g pages:861-865 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.2169/internalmedicine.1699-23 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 63 |j 2024 |e 6 |b 15 |c 03 |h 861-865 | ||