ArticleJournal of neurology2019
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Article in Journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.Orphanet journal of rare diseases · 2024Pooled it
- A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.Molecular genetics and metabolism reports · 2025Article
- Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.Orphanet journal of rare diseases · 2022Article
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.Neurogenetics · 2022Review
- Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.Frontiers in genetics · 2022Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?Frontiers in neurology · 2020Article
- Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Combined homocysteinemia with methylmalonic aciduria (MMA/HCY) are genetic disorders of intracellular cobalamin (cbl) transport and processing that cause downstream deficiencies in methylcobalamin and adenosylcobalamin. Untreated disease is characterized biochemically by methylmalonic aciduria and hyperhomocysteinemia, while the clinical features are variable. When spastic paraplegia (SP) dominates, it is difficult to differentiate from hereditary spastic paraplegia (HSP). Clinical, biochemical and imaging features were reviewed in eight patients with MMA/HCY that mimicked HSP. Seven males and one female were enrolled. The median onset age was 13 years old (range 7-26 years old). The median time delay of diagnosis was 20.5 months (range 2-60 months). Spastic gait was the first symptom in four patients, while the other four patients presented with chronic emotional abnormalities or cognitive impairment. The main clinical manifestation was SP, and other neurological symptoms included cognitive impairment (5/8), spastic dysuria (3/8), personality change and depression (3/8), ataxia (2/8), seizures (2/8), limb numbness (2/8), and developmental delay (2/8). When patients were diagnosed, the mean serum homocysteine level, the methylmalonic acid level in urine, the serum propionylcarnitine (C
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