Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSP is divided into a pure form and a complicated one including mental retardation, ophthalmologic abnormalities, ichthyosis, cerebellar ataxia, thin corpus callosum, and extrapyramidal signs. In general, autosomal recessive HSP (ARHSP) tends to be the complicated form. In ARHSP, SPG11 is the most common type, SPG15 being the second. SPG11 and SPG15 overlap in clinical and brain MRI findings including spastic paraplegia associated with cognitive impairment, ophthalmologic abnormalities, thin corpus callosum, and leukodystrophy.
123I-ioflupane single-photon emission computed tomography (123I-ioflupane SPECT) and 123I-metaiodobenzylguanidine myocardial scintigraphy (123I-MIBG myocardial scintigraphy) are usually used for the diagnosis of Parkinson disease (PD) and Parkinson syndrome. Decreasing 123I-MIBG myocardial scintigraphy...
We wish to thank all the participants.
This work was supported by Grants-in-Aid from the Research Committee for Ataxic Disease (Y.T.), and the Ministry of Health, Labor and Welfare, Japan, JSPS KAKENHI Grant Numbers JP18K07495 (Y.T.) and JP17K17772 (K.K.) from the Ministry of Education, Culture, Sports, Science and Technology, Japan, and grants for AMED under Grant Number JP17ek0109078 (Y.T.).
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflicts of interest.
- 4.Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Foriani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Setavanin G (2009) SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology 73:1111–1119CrossRefGoogle Scholar