123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Viviana	      Frantellizzi; Mariano	      Pontico; Arianna	      Pani; Maria    Silvia   De Feo; Giuseppe		      De Vincentis

Abstract

Background: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. Neuroimaging findings are commonly considered rather non-specific. To date, no neuroreceptorial brain imaging with ¹²³I-FP-CIT(DaTScan) is known in subjects with SSADH deficiency.

Methods: A 30-year-old man gained our attention to rule out any potential nigrostriatal dopaminergic presynaptic pathway alterations in a clinical context of a γ-hydroxybutyric aciduria. He showed impossibility to the autonomous gait, head and trunk retropulsion, lower limbs strength deficit, verbal and upper limbs motor stereotypies and irregular eye tracking.

Results: His brain MRI depicted basal ganglia signal abnormalities. Brain SPECT with DaTSCan images showed a global significant reduction of radiotracer uptake.

Conclusions: The findings obtained by means of the ¹²³I-DaTScan brain SPECT may give rise to new concerns on pathophysiological aspects of the SSADH deficiency disorder that has never been investigated before, such as the nigrostriatal dopaminergic system’s functionality, encouraging further investigation.

Keywords: SSADH deficiency, γ-hydroxybutyric aciduria, neuroreceptorial imaging, 123I-FP-CIT SPECT, DaTScan, presynaptic dopaminergic system.

« Previous

Graphical Abstract

[1] 
Vogel, K.R.; Pearl, P.L.; Theodore, W.H.; McCarter, R.C.; Jakobs, C.; Gibson, K.M. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. J. Inherit. Metab. Dis.,  2013, 36(3), 401-410.
[http://dx.doi.org/10.1007/s10545-012-9499-5] [PMID: 22739941] 
[2] 
Attri, S.V.; Singhi, P.; Wiwattanadittakul, N.; Goswami, J.N.; Sankhyan, N.; Salomons, G.S.; Roullett, J.B.; Hodgeman, R.; Parviz, M.; Gibson, K.M.; Pearl, P.L. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. JIMD Rep.,  2017, 34, 111-115.
[http://dx.doi.org/10.1007/8904_2016_14] [PMID: 27815844] 
[3] 
Leo, S.; Capo, C.; Ciminelli, B.M.; Iacovelli, F.; Menduti, G.; Funghini, S.; Donati, M.A.; Falconi, M.; Rossi, L.; Malaspina, P. SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. Metab. Brain Dis.,  2017, 32(5), 1383-1388.
[http://dx.doi.org/10.1007/s11011-017-0058-5] [PMID: 28664505] 
[4] 
Gordon, N. Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, γ-hydroxybutyric aciduria). Eur. J. Paediatr. Neurol.,  2004, 8(5), 261-265.
[http://dx.doi.org/10.1016/j.ejpn.2004.06.004] [PMID: 15341910] 
[5] 
Pearl, P.L.; Parviz, M.; Vogel, K.; Schreiber, J.; Theodore, W.H.; Gibson, K.M. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Dev. Med. Child Neurol.,  2015, 57(7), 611-617.
[http://dx.doi.org/10.1111/dmcn.12668] [PMID: 25558043] 
[6] 
Lapalme-Remis, S.; Lewis, E.C.; De Meulemeester, C.; Chakraborty, P.; Gibson, K.M.; Torres, C.; Guberman, A.; Salomons, G.S.; Jakobs, C.; Ali-Ridha, A.; Parviz, M.; Pearl, P.L. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology,  2015, 85(10), 861-865.
[http://dx.doi.org/10.1212/WNL.0000000000001906] [PMID: 26268900] 
[7] 
Wang, K.Y.; Barker, P.B.; Lin, D.D. A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review. Childs Nerv. Syst.,  2016, 32(7), 1305-1309.
[http://dx.doi.org/10.1007/s00381-015-2942-9] [PMID: 26499347] 
[8] 
Horino, A.; Kawawaki, H.; Fukuoka, M.; Tsuji, H.; Hattori, Y.; Inoue, T.; Nukui, M.; Kuki, I.; Okazaki, S.; Tomiwa, K.; Hirose, S. A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression. Brain Dev.,  2016, 38(9), 866-870.
[http://dx.doi.org/10.1016/j.braindev.2016.03.010] [PMID: 27117035] 
[9] 
Varrone, A.; Dickson, J.C.; Tossici-Bolt, L.; Sera, T.; Asenbaum, S.; Booij, J.; Kapucu, O.L.; Kluge, A.; Knudsen, G.M.; Koulibaly, P.M.; Nobili, F.; Pagani, M.; Sabri, O.; Vander Borght, T.; Van Laere, K.; Tatsch, K. European multicentre database of healthy controls for [123I]FP-CIT SPECT (ENC-DAT): age-related effects, gender differences and evaluation of different methods of analysis. Eur. J. Nucl. Med. Mol. Imaging,  2013, 40(2), 213-227.
[http://dx.doi.org/10.1007/s00259-012-2276-8] [PMID: 23160999] 
[10] 
Pearl, P.L.; Gibson, K.M.; Quezado, Z.; Dustin, I.; Taylor, J.; Trzcinski, S.; Schreiber, J.; Forester, K.; Reeves-Tyer, P.; Liew, C.; Shamim, S.; Herscovitch, P.; Carson, R.; Butman, J.; Jakobs, C.; Theodore, W. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology,  2009, 73(6), 423-429.
[http://dx.doi.org/10.1212/WNL.0b013e3181b163a5] [PMID: 19667317] 
[11] 
Pearl, P.L.; Capp, P.K.; Novotny, E.J.; Gibson, K.M. Inherited disorders of neurotransmitters in children and adults. Clin. Biochem.,  2005, 38(12), 1051-1058.
[http://dx.doi.org/10.1016/j.clinbiochem.2005.09.012] [PMID: 16298354] 
[12] 
Frantellizzi, V.; Morreale, M.; Pontico, M.; Francia, A.; Drudi, F.M.; Farcomeni, A.; Liberatore, M. 99mTc-HMPAO brain SPECT in the monitoring of cerebral vasculitis therapy. Rev. Esp. Med. Nucl. Imagen Mol.,  2018, 37(4), 211-217.
[PMID: 29605630] 
[13] 
Mancini, V.; Mastria, G.; Frantellizzi, V.; Viganò, A.; Petsas, N.; Sollaku, S.; Fanella, M.; Di Bonaventura, C.; Liberatore, M.; Di Piero, V. Aripiprazole-Triggered Alice in Wonderland Syndrome Episodes Studied with 99mTc-HMPAO Brain SPECT. Eur. Neurol.,  2018, 79(5-6), 333-334.
[http://dx.doi.org/10.1159/000490902] [PMID: 29986337] 
[14] 
Booth, T.C.; Nathan, M.; Waldman, A.D.; Quigley, A.M.; Schapira, A.H.; Buscombe, J. The role of functional dopamine-transporter SPECT imaging in parkinsonian syndromes, part 2. AJNR Am. J. Neuroradiol.,  2015, 36(2), 236-244.
[http://dx.doi.org/10.3174/ajnr.A3971] [PMID: 24924549] 
[15] 
Brooks, D.J. Molecular imaging of dopamine transporters. Ageing Res. Rev,  2016, 30, 114-121.
[http://dx.doi.org/10.1016/j.arr.2015.12.009] [PMID: 26802555] 

Rights & Permissions Print Cite

Article Metrics

15

1

Journal Information

For Authors

For Editors

For Reviewers

Explore Articles

Open Access

Open Access Articles

For Visitors

DOI https://dx.doi.org/10.2174/1874471013666200325101302	Print ISSN 1874-4710
Publisher Name Bentham Science Publisher	Online ISSN 1874-4729

Current Radiopharmaceuticals

123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Abstract

Graphical Abstract

Related Journals

Related Books

Related Articles