<scp>Early‐Onset</scp> and Severe Complex Hereditary Spastic Paraplegia Caused by <i>De Novo</i> Variants in <scp> <i>SPAST</i> </scp>-Reference-Cited by-同舟云学术

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Published:2022-09-14 Issue:12 Volume:37 Page:2440-2446
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Mo Alisa¹,Saffari Afshin¹,Kellner Melanie²³,Döbler‐Neumann Marion⁴,Jordan Catherine¹,Srivastava Siddharth¹,Zhang Bo¹⁵,Sahin Mustafa¹,Fink John K.⁶,Smith Linsley⁷,Posey Jennifer E.⁸,Alter Katharine E.⁹,Toro Camilo¹⁰,Blackstone Craig¹¹,Soldatos Ariane G.¹²,Christie Michelle⁷,Schüle Rebecca²³,Ebrahimi‐Fakhari Darius¹¹³¹⁴¹⁵^ORCID

Affiliation:

1. Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

2. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology University of Tübingen Tübingen Germany

3. German Center for Neurodegenerative Diseases (DZNE) Tübingen Germany

4. Department of Pediatric Neurology University Children's Hospital Tübingen Germany

5. ICCTR Biostatistics and Research Design Center Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

6. Department of Neurology University of Michigan Ann Arbor Michigan USA

7. Department of Neurology and Rehabilitation Medicine Texas Scottish Rite Hospital, University of Texas Southwestern Medical Center Dallas Texas USA

8. Department of Molecular & Human Genetics Baylor College of Medicine Houston Texas USA

9. Functional and Applied Biomechanics Section, Department of Rehabilitation Medicine Clinical Center, National Institutes of Health Bethesda Maryland USA

10. Undiagnosed Diseases Program National Institutes of Health Bethesda Maryland USA

11. Movement Disorders Division, Department of Neurology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA

12. National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

13. Movement Disorders Program, Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

14. The Manton Center for Orphan Disease Research, Boston Children's Hospital Boston Massachusetts USA

15. Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital Boston Massachusetts USA

Funder

Deutsche Forschungsgemeinschaft

Manton Center for Orphan Disease Research, Boston Children's Hospital

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

National Institutes of Health

NIH Clinical Center

Spastic Paraplegia Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29225

Reference29 articles.

1. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

2. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

3. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

4. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

5. Hereditary spastic paraplegia SPG4: what is known and not known about the disease

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