Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1
Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associate...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-06-01
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| Series: | Case Reports in Neurology |
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| Online Access: | https://beta.karger.com/Article/FullText/530974 |
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| author | Aparna Ajjarapu Shawna ME. Feely Michael E. Shy Christina Trout Stephan Zuchner Steven A. Moore Katherine D. Mathews |
| author_facet | Aparna Ajjarapu Shawna ME. Feely Michael E. Shy Christina Trout Stephan Zuchner Steven A. Moore Katherine D. Mathews |
| author_sort | Aparna Ajjarapu |
| collection | DOAJ |
| description | Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associated JALS followed for 30 years. She was initially evaluated at age 22 years for upper extremity weakness. She experienced gradual decline in muscle strength with development of weakness and hyperreflexia in lower extremities and diffuse fasciculations in the upper extremities at 26 years. She lost independent ambulation at age 45 years. Pulmonary function declined from a forced vital capacity of 94% predicted at 27 years to 49% predicted at 47 years, and she was hospitalized twice for respiratory failure. To our knowledge, this is the longest documented follow-up period of JALS caused by a de novo pathogenic variant in SPTLC1. |
| first_indexed | 2024-03-13T01:00:47Z |
| format | Article |
| id | doaj.art-3d0bf05c17e4433e9a51434f5dbe929e |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-03-13T01:00:47Z |
| publishDate | 2023-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-3d0bf05c17e4433e9a51434f5dbe929e2023-07-06T12:16:43ZengKarger PublishersCase Reports in Neurology1662-680X2023-06-011110.1159/000530974530974Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1Aparna Ajjarapu0Shawna ME. Feely1Michael E. Shy2Christina Trout3Stephan Zuchner4Steven A. Moore5Katherine D. Mathews6Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USADivision of Pediatric Neurology, Seattle Children’s Hospital, University of Washington School of Medicine, Seattle, WA, USADepartment of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USADepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USADepartment of Human Genetics and Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USADepartment of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA, USADepartment of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USADominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associated JALS followed for 30 years. She was initially evaluated at age 22 years for upper extremity weakness. She experienced gradual decline in muscle strength with development of weakness and hyperreflexia in lower extremities and diffuse fasciculations in the upper extremities at 26 years. She lost independent ambulation at age 45 years. Pulmonary function declined from a forced vital capacity of 94% predicted at 27 years to 49% predicted at 47 years, and she was hospitalized twice for respiratory failure. To our knowledge, this is the longest documented follow-up period of JALS caused by a de novo pathogenic variant in SPTLC1.https://beta.karger.com/Article/FullText/530974juvenile amyotrophic lateral sclerosissptlc1neuromuscularcase report |
| spellingShingle | Aparna Ajjarapu Shawna ME. Feely Michael E. Shy Christina Trout Stephan Zuchner Steven A. Moore Katherine D. Mathews Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 Case Reports in Neurology juvenile amyotrophic lateral sclerosis sptlc1 neuromuscular case report |
| title | Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 |
| title_full | Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 |
| title_fullStr | Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 |
| title_full_unstemmed | Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 |
| title_short | Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 |
| title_sort | thirty year follow up of early onset amyotrophic lateral sclerosis with a pathogenic variant in sptlc1 |
| topic | juvenile amyotrophic lateral sclerosis sptlc1 neuromuscular case report |
| url | https://beta.karger.com/Article/FullText/530974 |
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