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Spastic paraplegia, autosomal dominant

MedGen UID:
155594
•Concept ID:
C0751602
•
Disease or Syndrome
Synonym: Autosomal dominant hereditary spastic paraplegia
SNOMED CT: Autosomal dominant hereditary spastic paraplegia (737227004)
 
OMIM®: 600361

Professional guidelines

PubMed

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.
Meyyazhagan A, Kuchi Bhotla H, Pappuswamy M, Orlacchio A
Int J Mol Sci 2022 Jul 11;23(14) doi: 10.3390/ijms23147665. PMID: 35887006Free PMC Article
Clinical features and management of hereditary spastic paraplegia.
Faber I, Servelhere KR, Martinez AR, D'Abreu A, Lopes-Cendes I, França MC Jr
Arq Neuropsiquiatr 2014 Mar;72(3):219-26. doi: 10.1590/0004-282x20130248. PMID: 24676440
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.
Lin P, Mao F, Liu Q, Shao C, Yan C, Gong Y
Prenat Diagn 2010 May;30(5):485-6. doi: 10.1002/pd.2485. PMID: 20306460

Recent clinical studies

Etiology

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A
J Child Neurol 2007 Feb;22(2):214-7. doi: 10.1177/0883073807300293. PMID: 17621486

Diagnosis

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A
J Child Neurol 2007 Feb;22(2):214-7. doi: 10.1177/0883073807300293. PMID: 17621486

Recent systematic reviews

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320

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