MyMedR

BACKGROUND: Cerebral toxoplasmosis (CTx) is a central nervous system opportunistic infection with variable neurological manifestations. Although tropism of Toxoplasma gondii for the basal ganglia is well known, movement disorders (MDs) represent only a small percentage of CTx-related neurological complications. CTx-associated MDs are usually hyperkinetic, whereas parkinsonism associated with evidence of presynaptic dopaminergic deficit has never been described.

CASE: We report a human immunodeficiency virus-positive patient who developed a complex MD featuring unilateral tremor combined with parkinsonism and dystonia following an acute episode of disseminated CTx. Her dopamine transporter scan (DaTscan) documented contralateral presynaptic dopaminergic deficit. Levodopa initiation improved both tremor and parkinsonism after ineffective trials of several other medications over the years.

LITERATURE REVIEW: A total of 64 patients presenting with CTx-related MDs have been described. The most common MD was chorea (44%), followed by ataxia (20%), parkinsonism (16%), tremor (14%), dystonia (14%), myoclonus (3%), and akathisia (2%). DaTscan was performed only in 1 case, of Holmes tremor, that demonstrated reduced presynaptic dopaminergic uptake. Positive response to dopaminergic treatment was reported in 3 cases of Holmes tremor and 2 cases of parkinsonism.

CONCLUSIONS: Presynaptic dopaminergic deficit may occur in CTx-related tremor combined with parkinsonism. Its identification should prompt initiation of levodopa, thus avoiding unnecessary trials of other drugs.

Fulltext A Reflection on Motor Overflow, Mirror Phenomena, Synkinesia and Entrainment

Quattrone A, Latorre A, Magrinelli F, Mulroy E, Rajan R, Neo RJ, et al.

Mov Disord Clin Pract, 2023 Sep;10(9):1243-1252.

PMID: 37772299 DOI: 10.1002/mdc3.13798

In patients with movement disorders, voluntary movements can sometimes be accompanied by unintentional muscle contractions in other body regions. In this review, we discuss clinical and pathophysiological aspects of several motor phenomena including mirror movements, dystonic overflow, synkinesia, entrainment and mirror dystonia, focusing on their similarities and differences. These phenomena share some common clinical and pathophysiological features, which often leads to confusion in their definition. However, they differ in several aspects, such as the body part showing the undesired movement, the type of this movement (identical or not to the intentional movement), the underlying neurological condition, and the role of primary motor areas, descending pathways and inhibitory circuits involved, suggesting that these are distinct phenomena. We summarize the main features of these fascinating clinical signs aiming to improve the clinical recognition and standardize the terminology in research studies. We also suggest that the term "mirror dystonia" may be not appropriate to describe this peculiar phenomenon which may be closer to dystonic overflow rather than to the classical mirror movements.

Fulltext ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?

Martin AJ, Ong TL, Briceno-Morales H, Tchan M, Fung VSC

Mov Disord Clin Pract, 2022 Nov;9(8):1120-1123.

PMID: 36339296 DOI: 10.1002/mdc3.13564

Genetic Movement Disorders Commonly Seen in Asians

Jagota P, Lim SY, Pal PK, Lee JY, Kukkle PL, Fujioka S, et al.

Mov Disord Clin Pract, 2023 Jun;10(6):878-895.

PMID: 37332644 DOI: 10.1002/mdc3.13737

The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.

Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I

Ong TL, Lau YH, Ngu LH, Hadi D, Lau KM, Mawardi AS

Mov Disord Clin Pract, 2023 Aug;10(Suppl 3):S38-S40.

PMID: 37636236 DOI: 10.1002/mdc3.13780

Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities

Tan AH, Cornejo-Olivas M, Okubadejo N, Pal PK, Saranza G, Saffie-Awad P, et al.

Mov Disord Clin Pract, 2024 Jan;11(1):14-20.

PMID: 38291851 DOI: 10.1002/mdc3.13903

Neuropsychiatric Presentation of Anti-DPPX Progressive Encephalomyelitis with Rigidity and Myoclonus

Neo RJ, Mehta AR, Weston M, Magrinelli F, Quattrone A, Gandhi S, et al.

Mov Disord Clin Pract, 2024 Jan;11(1):97-100.

PMID: 38291842 DOI: 10.1002/mdc3.13928

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