Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471–86.

Article  CAS  PubMed  Google Scholar 

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJG, Wevers RA, et al. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol. 2010;68:876–87.

Article  PubMed  Google Scholar 

Fraldi A, Klein AD, Medina DL, Settembre C. Brain disorders due to lysosomal dysfunction. Annu Rev Neurosci. 2016;39:277–95.

Article  CAS  PubMed  Google Scholar 

Shapiro E, King K, Ahmed A, Rudser K, Rumsey R, Yund B, et al. The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: an exploratory study. Mol Genet Metab Reports. 2016;6:41–47.

Article  CAS  Google Scholar 

Wolfenden C, Wittkowski A, Hare DJ. Symptoms of autism spectrum disorder (ASD) in individuals with mucopolysaccharide disease type III (Sanfilippo syndrome): a systematic review. J Autism Dev Disord. 2017;47:3620–33.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr. 2014;164:1147–51.

Article  PubMed  PubMed Central  Google Scholar 

Wijburg FA, Wȩgrzyn G, Burton BK, Tylki-Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr Int J Paediatr. 2013;102:462–70.

Article  Google Scholar 

Lehtonen A, Rust S, Jones S, Brown R, Hare D. Social functioning and behaviour in mucopolysaccharidosis IH [Hurlers syndrome]. JIMD Rep. 2018;39:75–81.

PubMed  Google Scholar 

Holt JB, Poe MD, Escolar ML. Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics. 2011;127:e1258–65.

Article  PubMed  Google Scholar 

Santosh P, Parker JR, Jones L. Psychopharmacological treatment of behavioural problems in Sanfilippo syndrome. BMJ Case Rep. 2009;2009:bcr07.2008.0480.

Article  PubMed  PubMed Central  Google Scholar 

Tchan MC, Sillence D. Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. J Intellect Dev Disabil. 2009;34:275–9.

Article  PubMed  Google Scholar 

Kalkan Ucar S, Ozbaran B, Demiral N, Yuncu Z, Erermis S, Coker M. Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev. 2010;32:156–61.

Article  PubMed  Google Scholar 

De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, et al. Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nat Commun. 2021;12:3495.

Article  PubMed  PubMed Central  Google Scholar 

Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J. ADHD symptoms in neurometabolic diseases: underlying mechanisms and clinical implications. Neurosci Biobehav Rev. 2022;132:838–56.

Article  CAS  PubMed  Google Scholar 

Barnett A, Iorio LC, McQuade R, Chipkin RE. Pharmacological and behavioral effects of D1 dopamine antagonists. Adv Exp Med Biol. 1988;235:137–44.

Article  CAS  PubMed  Google Scholar 

Gilbert DL, Dubow JS, Cunniff TM, Wanaski SP, Atkinson SD, Mahableshwarkar AR. Ecopipam for Tourette syndrome: a randomized trial. Pediatrics. 2023;151:e2022059574.

Article  PubMed  Google Scholar 

Gilbert DL, Murphy TK, Jankovic J, Budman CL, Black KJ, Kurlan RM, et al. Ecopipam, a D1 receptor antagonist, for treatment of tourette syndrome in children: a randomized, placebo-controlled crossover study. Mov Disord. 2018;33:1272–80.

Article  CAS  PubMed  Google Scholar 

Khasnavis T, Torres RJ, Sommerfeld B, Puig JG, Chipkin R, Jinnah HA. A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease. Mol Genet Metab. 2016;118:160–6.

Article  CAS  PubMed  Google Scholar 

Hara Y, Ago Y, Taruta A, Hasebe S, Kawase H, Tanabe W, et al. Risperidone and aripiprazole alleviate prenatal valproic acid-induced abnormalities in behaviors and dendritic spine density in mice. Psychopharmacology. 2017;234:3217–28.

Article  CAS  PubMed  Google Scholar 

Silverman JL, Tolu SS, Barkan CL, Crawley JN. Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP. Neuropsychopharmacology. 2010;35:976–89.

Article  CAS  PubMed  Google Scholar 

Hoffman DC, Donovan H. Catalepsy as a rodent model for detecting antipsychotic drugs with extrapyramidal side effect liability. Psychopharmacology. 1995;120:128–33.

Article  CAS  PubMed  Google Scholar 

Harris SS, Green SM, Kumar M, Urs NM. A role for cortical dopamine in the paradoxical calming effects of psychostimulants. Sci Rep. 2022;12:1–9.

Article  Google Scholar 

Huss M, Duhan P, Gandhi P, Chen CW, Spannhuth C, Kumar V. Methylphenidate dose optimization for ADHD treatment: review of safety, efficacy, and clinical necessity. Neuropsychiatr Dis Treat. 2017;13:1741–51.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sambri I, D’Alessio R, Ezhova Y, Giuliano T, Sorrentino NC, Cacace V, et al. Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases. EMBO Mol Med. 2017;9:112–32.

Article  CAS  PubMed  Google Scholar 

Monaco A, Maffia V, Sorrentino NC, Sambri I, Ezhova Y, Giuliano T, et al. The amyloid inhibitor CLR01 relieves autophagy and ameliorates neuropathology in a severe lysosomal storage disease. Mol Ther. 2020;28:1167–76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capuozzo A, Montefusco S, Cacace V, Sofia M, Esposito A, Napolitano G, et al. Fluoxetine ameliorates mucopolysaccharidosis type IIIA. Mol Ther. 2022;30:1432–50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Starr BS, Starr MS. Differential effects of dopamine D1 and D2 agonists and antagonists on velocity of movement, rearing and grooming in the mouse: implications for the roles of D1 and D2 receptors. Neuropharmacology. 1986;25:455–63.

Article  CAS  PubMed  Google Scholar 

Sobrian S, Jones BL, Varghese S, Holson R. Behavioral response profiles following drug challenge with dopamine receptor subtype agonists and antagonists in developing rat. Neurotoxicol Teratol. 2003;25:311–28.

Article  CAS  PubMed  Google Scholar 

Luque-Rojas MJ, Galeano P, Suárez J, Araos P, Santín LJ, De Fonseca FR, et al. Hyperactivity induced by the dopamine D2/D3 receptor agonist quinpirole is attenuated by inhibitors of endocannabinoid degradation in mice. Int J Neuropsychopharmacol. 2013;16:661–76.

Article  CAS  PubMed  Google Scholar 

Olivito L, De Risi M, Russo F, De Leonibus E. Effects of pharmacological inhibition of dopamine receptors on memory load capacity. Behav Brain Res. 2019;359:197–205.

Article  CAS  PubMed  Google Scholar 

Sannino S, Russo F, Torromino G, Pendolino V, Calabresi P, De Leonibus E. Role of the dorsal hippocampus in object memory load. Learn Mem. 2012;19:211–8.

Article  PubMed  Google Scholar 

Clearly MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child. 1993;69:403–6.

Article