MyMedR

Huntington disease-like phenotype in a patient with ANO3 mutation

Koya Kutty S, Mulroy E, Magrinelli F, Di Lazzaro G, Latorre A, Bhatia KP

Parkinsonism Relat Disord, 2021 09;90:120-122.

PMID: 33640251 DOI: 10.1016/j.parkreldis.2021.02.022

Fulltext Late-Onset Chorea in JAK2-Associated Essential Thrombocythemia

Koya Kutty S, Di Lazzaro G, Magrinelli F, Mulroy E, Latorre A, Bhatia KP

Mov Disord Clin Pract, 2021 Jan;8(1):145-148.

PMID: 33426172 DOI: 10.1002/mdc3.13105

Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8

Mulroy E, Magrinelli F, Mohd Fauzi NA, Kutty SK, Latorre A, Bhatia KP

Parkinsonism Relat Disord, 2021 04;85:26-28.

PMID: 33662919 DOI: 10.1016/j.parkreldis.2021.02.011

Presynaptic Hemiparkinsonism Following Cerebral Toxoplasmosis: Case Report and Literature Review

Malaquias MJ, Magrinelli F, Quattrone A, Neo RJ, Latorre A, Mulroy E, et al.

Mov Disord Clin Pract, 2023 Feb;10(2):285-299.

PMID: 36825049 DOI: 10.1002/mdc3.13631

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 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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