Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III

Tchan, Michel; Sillence, David

doi:10.1080/13668250903070891

Cited by 13 publications

(8 citation statements)

References 21 publications

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“…Sleep disturbance is common with both difficulty falling asleep and frequent nighttime wakening (11). This stage can be very difficult to manage, and medication may be necessary to control behaviors and aid sleep (13,14). Over time, progressive MPS deposition in the brain leads to seizures in 60-70%, spasticity, and feeding difficulties.…”

Section: Mps IIImentioning

confidence: 99%

Lysosomal storage disease overview

Sun¹

2018

Ann. Transl. Med

185

153

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The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. This review summarizes the main clinical features, diagnosis, and management of LSDs with an emphasis on those for which treatment is available.

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Section: Mps IIImentioning

confidence: 99%

Lysosomal storage disease overview

Sun¹

2018

Ann. Transl. Med

185

153

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“…Typical and atypical antipsychotics, such as haloperidol and risperidone, are dopaminergic drugs thought to exert their effects by inhibiting the action of dopamine (DA) projections, originating in the mesencephalon, on D2 receptors (D2Rs) in the prefrontal cortex and the striatum. However, they have few or variable therapeutic effects on autistic-like behaviours in MPS-IIIA, with most success against hyperactivity in very young children; however, they have been reported to have considerably higher than expected extrapyramidal side effects in older patients [7][8][9] , which suggests diseasespecific alterations in the dopaminergic systems of MPS-IIIA patients.…”

mentioning

confidence: 99%

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

et al. 2021

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Lysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we discovered that autistic-like behaviours are due to increased proliferation of mesencephalic dopamine neurons originating during embryogenesis, which is not due to lysosomal dysfunction, but to altered HS function. Hyperdopaminergia and autistic-like behaviours are corrected by the dopamine D1-like receptor antagonist SCH-23390, providing a potential alternative strategy to the D2-like antagonist haloperidol that has only minimal therapeutic effects in MPS-IIIA. These findings identify embryonic dopaminergic neurodevelopmental defects due to altered function of HS leading to autistic-like behaviours in MPS-II and MPS-IIIA and support evidence showing that altered HS-related gene function is causative of autism.

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“…In their review of 20 patients with mucopolysaccharidosis type III, treated with neuroleptic drugs (lamotrigine, risperidone, and olanzapine), Tchan and Sillence (2009) reported five patients with a clear relationship between drug assumption and extrapyramidal symptoms (included acute dystonia). Moreover, Shapiro et al (2006) reviewed 44 adults with late-onset Tay-Sachs disease who experienced worsening of neurologic symptoms (weakness, incoordination, imbalance, tremor, dysarthria, cognitive decline, and dystonia) following treatments with medications such as haloperidol, risperidone, and chlorpromazine.…”

Section: Discussionmentioning

confidence: 99%

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

et al. 2012

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Acute dystonia is an abrupt event mainly related to toxicity of drugs such as antiemetics, antipsychotics, anti-acids, and, more rarely, tricyclic antidepressants. Use of amitriptyline in metachromatic leukodystrophy (MLD), a lysosomal storage disorder (LSD) due to arylsulfatase A deficiency, is suggested to control neurological pain and irritability. We describe a patient with MLD who experienced acute dystonia as a side effect of low dosage of amitriptyline. The distribution of psychotropic drugs, including antidepressants, depends upon lysosomal trapping which is inefficient in LSD. The defective lysosomal depot might raise cerebral levels of amitriptyline, thus enhancing its adverse effects.Physicians caring for children with MLD treated with psychotropic drugs should be aware of such adverse events which are potentially related to lysosomal dysfunction. This experience raises a potential concern about the appropriate dose of amitriptyline in patients with MLD.

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Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III

Abstract: The incidence of extrapyramidal side effects was considerably higher than expected. We suggest that these medications be used with considerable caution in these patients.

Cited by 13 publications

References 21 publications

Lysosomal storage disease overview

Lysosomal storage disease overview

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy

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