Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings.

BACKGROUND AND PURPOSE: Chorea-acanthocytosis, a rare neurodegenerative disease, affects both the striatum and the medial temporal lobe which may cause involuntary movements and epilepsy, respectively. We examined the imaging changes of the hippocampus/amygdala and the striatum as well as clinical symptoms. MATERIALS AND METHODS: We retrospectively reviewed 29 MRI and 13 SPECT studies and the clinical findings of seven genetically confirmed chorea-acanthocytosis patients. We evaluated the time-dependent imaging changes of the hippocampus/amygdala and striatum and examined the relationships among these images and symptoms. RESULTS: The initial symptom was epilepsy in four patients and involuntary movements in three patients. These symptoms were eventually noted in five and all seven patients, respectively. On MRI, most patients showed striatum atrophy before a hippocampus/amygdala abnormality emerged, but one patient showed a hippocampus/amygdala abnormality before striatum atrophy. Abnormal MRI findings of hippocampus/amygdala were noted in five patients and atrophy of striatum in all seven patients. SPECT demonstrated hypoperfusion of hippocampus/amygdala in three patients and that of striatum in all five available patients. Four patients demonstrated hypoperfusion of striatum earlier than that of hippocampus/amygdala and one patient showed hypoperfusion of both simultaneously. Many imaging abnormal lesions were accompanied by their corresponding symptoms, but not always so. CONCLUSION: Striatum abnormalities were the initial imaging findings in many chorea-acanthocytosis patients, but epilepsy or hippocampus/amygdala imaging abnormalities may be the only findings at the early stage. It is important to understand the detailed clinical and imaging time courses for the diagnosis of chorea-acanthocytosis.

Dilative cardiomyopathy displaying double trouble etiology: Myocarditis and Mcleod syndrome?

Herein we report on a patient acutely admitted to the emergency room due to malaise and effort intolerance. A heart ultrasound, a cardiovascular MRI and an endomyocardial biopsy were suggestive of myocarditis. With appropriate medications the ejection fraction (EF) slowly improved but follow-up blood examinations revealed a hyperckemia. A neuromuscular examination revealed bilateral atrophy of medial gastrocnemius muscle and absent deep tendon reflexes at lower limbs . Genetic analysis revealed the presence of the hemizygous novel mutation c.757delT (p.Trp253fs) in XK gene thus confirming the diagnosis of McLeod Syndrome (MLS). In this patient an overlap of two conditions, dilative cardiomyopathy (DCMi) due to myocarditis and MLS, might have occurred. Patients with DCMi and hyperckemia should undergo a careful neuromuscular examination as some subclinical signs (calves-hypotrophy, areflexia) might go overlooked. We therefore suggest including the search for acanthocytes in patients with DCMi and hyperCKemia as it is a quick and cheap test that might unravel the MLS diagnosis.

Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis.

BACKGROUND AND PURPOSE: Chorea-acanthocytosis is clinically difficult to distinguish from Huntington's disease because these disorders have similar symptoms and MR imaging findings. We evaluated the usefulness of single-case voxel-based morphometry (VBM) analysis for differentiating the two diseases as well as VBM analysis. MATERIALS AND METHODS: We examined five genetically proven chorea-acanthocytosis patients and 11 Huntington's disease patients to detect differences in the gray and white matter atrophic pattern by using single-case VBM analysis in each patient and their clinical findings. We also evaluated VBM analysis for a group comparison in both disease and control groups. RESULTS: The single-case VBM analysis results demonstrated a gray matter volume loss in caudate nucleus in all 16 patients. A characteristic symmetrical white matter volume loss was detected in globus pallidus, putamen, and thalamus on both sides in all the chorea-acanthocytosis patients, but this pattern of atrophy was not seen in any of the Huntington's disease patients. With the VBM analysis, a significant gray matter volume loss was noted in caudate nucleus on both sides in chorea-acanthocytosis patients compared with Huntington's disease patients, and a more extensive white matter volume loss around the basal ganglia and thalamus was observed in chorea-acanthocytosis patients compared to Huntington's disease patients, consistent with the single-case VBM analysis results. Genetic testing identified two novel pathogenic mutations, exon 1 c.16_22delGTGGTCG and exon 55 c.7736-7739delGAGA in a chorea-acanthocytosis patient. CONCLUSIONS: Single-case VBM analysis may be useful to differentiate chorea-acanthocytosis from Huntington's disease with a focus on white matter atrophy.

Chorea.

PURPOSE OF REVIEW: This article provides an overview of the approach to chorea in clinical practice, beginning with a discussion of the phenomenologic features of chorea and how to differentiate it from other movement disorders. The diagnostic approach, clinical features of important acquired and genetic choreas, and therapeutic principles are also discussed. Practical clinical points and caveats are included. RECENT FINDINGS: C9orf72 disease is the most common Huntington disease phenocopy, according to studies in the European population. Anti-IgLON5 disease can present with chorea. The role of immunotherapies in Sydenham chorea has increased, and further clinical studies may be useful. Benign hereditary chorea is a syndrome or phenotype due to mutations in several genes, including NKX2-1, ADCY5, GNAO1, and PDE10A. New-generation presynaptic dopamine-depleting agents provide more options for symptomatic treatment of chorea with fewer adverse effects. Deep brain stimulation has been performed in several choreic disorders, but features other than chorea and the neurodegenerative nature should be taken into consideration. Studies on genetic interventions for Huntington disease are ongoing. SUMMARY: Clinical features remain crucial in guiding the differential diagnosis and appropriate investigations in chorea. Given the complexity of most choreic disorders, treating only the chorea is not sufficient. A comprehensive and multidisciplinary approach is required.

FDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis.

Chorea-acanthocytosis is 1 type of neuroacanthocytosis that is a group of rare, hereditary neurodegenerative disorders. We presented a brain FDG PET finding of a 31-year-old woman with chorea-acanthocytosis. The images demonstrated significant hypometabolism in bilateral caudate nuclei and putamina. The finding of FDG PET is more prominent than that of MRI. Another interesting observation is the mildly increased FDG uptake in pituitary gland, although its relationship with the disease is unclear.

Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis.

Chorea-acanthocytosis is a rare autosomal recessive disorder. To date, treatment is only symptomatic and supportive. Results from the few reports of chorea-acanthocytosis patients treated with deep brain stimulation (DBS) have been inconsistent. We present case reports for two patients with chorea-acanthocytosis who received DBS treatment and compare the outcomes with results from the literature. Both patients showed the typical clinical features of chorea-acanthocytosis with motor symptoms resistant to medical treatment. Chorea was significantly improved following low-frequency DBS treatment in both patients. However, dystonia was only mildly improved. Four chorea-acanthocytosis patients treated with DBS treatment have been reported in the literature. One patient had improvement with low-frequency DBS stimulation, while another two had improvement with higher-frequency DBS. One patient, however, did not improve with either low-frequency or high-frequency DBS. Bilateral DBS to the GPi can improve chorea and dystonia in some patients with intractable chorea-acanthocytosis. However, selection criteria for the most promising candidates must be defined, and the long-term benefits evaluated in clinical studies.

Onset of neuropsychiatric symptoms after psychological trauma may result in erroneous diagnostic bias.

We report a case of neuroacanthocytosis, which was misdiagnosed as conversion disorder. Because the onset was after a psychologically stressful physical trauma, the patient's symptoms were interpreted in terms of psychological regression. The case clearly points out the defects of descriptive psychiatric diagnosis, especially in the area of somatoformal disorders. It also reminds the clinicians to keep in mind rare neurological disorders as possible causes for psychiatric symptoms.

Automatic striatal volumetry allows for identification of patients with chorea-acanthocytosis at single subject level.

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease with erythrocyte membrane dysfunction, progressive hyperkinesia, and neuropsychological abnormalities. Neuropathologic and neuroimaging investigations demonstrate damage to the basal ganglia. Here, a novel automated technique of voxel-based magnetic resonance imaging (MRI) analysis was applied to determine the volumes of caudate nucleus and putamen in nine patients with proven ChAc in comparison with 257 healthy controls. At individual subject level, ChAc patients and controls could be reliably discriminated by the volume of the caudate, using a cut-off of 5 ml, or by a value of -3 in terms of z scores. Putaminal volumes were also significantly reduced in ChAc patients, but showed some overlap with controls. The results indicate that this new automated volumetric MRI analysis offers an objective imaging tool for identification of ChAc patients by quantification of basal ganglia atrophy and lends itself to extension to other basal ganglia diseases.