Session Information
Date: Wednesday, June 7, 2017
Session Title: Choreas (Non-Huntington’s Disease)
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: We seek to describe the different clinical manifestations of neuroacanthocytosis syndromes and to focus especially on Psychiatric one.
Background: The term “neuroacanthocytosis” is used generally to refer to disorders in which neurological abnormalities are accompanied by the presence of thorny red blood cells, known as acanthocytes. There are four core neuroacanthocytosis (NA) syndromes: chorea-acanthocytosis (ChAc), McLeod syndrome, pantothenate kinase-associated neurodegeneration (PKAN) and Huntington’s disease-like 2 (HDL2).
Methods: Four cases of neuroacanthocytosis Syndromes are described. All patients had a cerebral MRI, research of acanthocytes in blood.
Results: Three men and one woman with a mean age of 31 years, with no past history were hospitalized in our department. Three of them had ChAc and one had PKAN.Three patients had chorea and one of them had parkinsonism. All of them had Psychiatric manifestations such as self-mutilation, agitation and obsessive-compulsive behavior. The “eye-of-the-tiger” seen on MRI supports the diagnosis of PKAN in one patient and for the others cerebral MRI was normal. Acanthocytosis were found in all patients ‘blood.
Conclusions: Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar in the four neuroacanthocytosis Syndromes. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. Psychiatric manifestations include depression, self-mutilation with tongue and lip-biting, head drops, agitation and obsessive-compulsive symptoms. Sometimes, these psychiatric troubles can usher the clinical presentations and we should think about these syndromes especially in front of young patients.
References: Adjobo-Hermans MJ, Cluitmans JC, Bosman GJ. Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes.Tremor Other Hyperkinet Mov (N Y). 2015
Walker RH. Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes. J Mov Disord. 2015
To cite this abstract in AMA style:
Z. Brahem, i. bedoui, a. riahi, h. derbali, m. mansour, j. zaouali, r. mrissa. Psychiatric Manifestations of Neuroacanthocytosis Syndromes [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/psychiatric-manifestations-of-neuroacanthocytosis-syndromes/. Accessed May 21, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/psychiatric-manifestations-of-neuroacanthocytosis-syndromes/