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Hemolytic Anemia Associated with Red Cell Membrane Defects
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
A diverse group of rare disorders of unknown cause may be considered part of the chorea-acanthocytosis syndrome. Both dominant and recessive inheritance patterns have been reported. A variety of neurodegenerative problems are associated with acanthocytosis. Usually the degree of hemolysis is minor. Serum lipoproteins are normal.
Pet and Huntington’s Disease
Published in W. R. Wayne Martin, Functional Imaging in Movement Disorders, 2019
Thus, striatal hypometablism appears to be a sensitive indicator of functional change in symptomatic Huntington’s disease patients. This is true whether the patient has primarily motoric or psychiatric symptoms at onset and also includes both the rigid and the choreic groups.27,29–43,51 Striatal hypometabolism is not specific for Huntington’s disease since it is also seen in chorea-acanthocytosis, benign hereditary chorea, and Lesch-Nyhan syndrome (Table 1).54–56 Similarly, non-Huntingtonian chorea may occur without reductions in striatal metabolism or perfusion. Examples of the latter situation have been reported with chorea secondary to systemic lupus erythematosus.58 Finally, choreiform movements are seen in tardive dyskinesia despite the fact that these subjects have elevated glucose utilization in the lenticular nuclei.59,60
Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
Neuroacanthocytosis is an umbrella term for syndromes that consist of red blood cell abnormalities (acanthocytes) and neurological features. Of these, chorea-acanthocytosis is an autosomal recessive disorder that presents in early adulthood with dystonia, chorea, tics and psychiatric features. Parkinsonism may become a prominent feature later in life. Mutations have been identified in the CHAC gene encoding a protein called chorein. There is also an X-linked form associated with the presence of Kell antigen – clinically this is indistinguishable from the recessive form.
Unusual gait disorders: a phenomenological approach and classification
Published in Expert Review of Neurotherapeutics, 2019
Vijayashankar Paramanandam, Karlo J. Lizarraga, Derrick Soh, Musleh Algarni, Mohammad Rohani, Alfonso Fasano
The ‘stutter-step gait’ has been described in early and mid-stages of Huntington’s disease (HD) and chorea-acanthocytosis. This gait is characterized by reduced stride length and cadence associated with hesitation (particularly during the heel-off terminal stance phase), hyperflexion of the knee during the mid-stance phase in the ipsilateral or contralateral to the less mobile side, and asymmetric weight bearing during foot-flat or loading response phase. Reduced stride length and hesitation resembling FOG or festination are also a component of this complex gait [67]. Chorea-acanthocytosis patients may have a peculiar ‘rubber man gait’ due to bizarre truncal instability and near falls due to sudden, violent truncal involuntary movements combined with hypotonia [68].
Treatment options for chorea
Published in Expert Review of Neurotherapeutics, 2018
There are many causes of chorea, including Huntington’s disease (HD), neuroacanthocytosis (a group of neurologic conditions including ‘chorea-acanthocytosis’) [3], various autoimmune and metabolic disorders, certain drugs, and structural lesions involving the basal ganglia (Figure 1) [4]. Chorea is also seen as part of tardive dyskinesia (TD) and paroxysmal movement disorders. Chorea is thought to develop as a result of dysfunction in the complex networks connecting the basal ganglia, thalamus and motor cortex [5]. Specifically, the dysfunction arises in the two GABAergic striatopallidal pathways modulating the globus pallidus internal segment (GPi). The ‘direct’ pathway, named such because it is a single neuron pathway, facilitates movement by inhibiting the GPi thus promoting thalamocortical stimulation. The ‘indirect’ pathway, named such because it connects through the globus pallidus external segment (GPe) and subthalamic nucleus (STN), excites the GPi thus reducing thalamocortical stimulation and inhibiting movement. Overall control of movement is achieved by a modulation of these two pathways [4]. Degeneration of the indirect pathway in HD, overstimulation of the direct pathway in levodopa-induced dyskinesia (LID) of Parkinson’s disease (PD) or destruction of the STN by stroke, ultimately leads to excessive thalamocortical stimulation and the hyperkinetic state of chorea. This model, however, may be too simplistic. For example, recent studies have provided evidence that changes in cortical excitability may play an important role in generation of chorea but it remains unknown if these precede or follow striatal changes [4,6,7]. Additionally, clinical improvement in LID seen after pallidotomy, which would expect to create a hyperkinetic state by destroying the GPi, is inconsistent with the current model.