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Benign Familial Chorea

Hereditary Benign Chorea


Presentation

  • A familial case with a mild clinical presentation inherited the mutation from the affected father, whereas in a sporadic case the mutation was de novo.[pediatricneurologybriefs.com]
  • The medical section provides a starting point for assessing and treating patients who present with a movement disorder and guides practitioners through the clinical presentation, diagnosis, and work up of all major disease categories.[books.google.com]
  • The core features of early hypothyroidism, female predominance, hypotonia, delayed motor milestones, and chorea were present.[ng.neurology.org]

Workup

  • Therefore, we suggest considering BHC with mutations in the NKX2-1 gene in the diagnostic workup also in those patients with hyperkinetic movements such as early onset dystonia and ataxia.[cerebellumandataxias.biomedcentral.com]
White Matter Lesions
  • matter lesions, hypogonadotropic hypogonadism, in some families chorea and athetosis Ataxia telangiectasia ATM AR Oculomotor apraxia, telangiectasia, dystonia AOA1 (Ataxia with oculomotor apraxia 1) APTX AR Early-onset cerebellar signs, sensory neuropathy[cerebellumandataxias.biomedcentral.com]

Treatment

  • Thorough coverage for each neurological disease clearly defines age at onset, course of illness, clinical features, and treatment options. Differential diagnosis tables and treatment algorithms expedite clinical decision making.[books.google.com]
  • ., recurring infections). [1] Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. [1] BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene).[rarediseases.info.nih.gov]
  • Piracetam is used as an adjunctive treatment for myoclonus of cortical origin.[patient.info]

Prognosis

  • Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/ NKX2-1 gene. J Neurol Neurosurg Psychiatry Oct 201283(10): 956–962, DOI: [ PubMed ][pediatricneurologybriefs.com]
  • Genetic testing is available since the last decade, leading physicians to classify adequately patients and separate them from other similar conditions, mainly Huntington disease and myoclonus-dystonia, which have a different prognosis and treatment.[link.springer.com]
  • Even if we disregard the CT liver findings for a moment, a number of salient signs point toward a dismal prognosis.[thegonzalezprotocol.com]
  • A correct diagnosis is of great importance for the patients, especially as many differential diagnoses, including early onset ataxia, often have a more severe prognosis compared to BHC [ 30 ].[cerebellumandataxias.biomedcentral.com]
  • Prognosis value of myoclonus status in comatose survivors of cardiac arrest . Ann Neurol 1994 ; 35 : 239 –243. 6. Caviness JN , Forsyth PA , Layton DD , McPhee TJ . The movement disorder of adult opsoclonus . Mov Disord 1995 ; 10 : 22 –27. 7.[cambridge.org]

Etiology

  • Non-genetic etiologies are discussed, including medications, structural lesions, psychogenic causes, and metabolic abnormalities. This book describes in detail the latest clinical and etiological information regarding the causes of chorea.[books.google.com]
  • Diagnosis is challenging since chorea has the same phenomenology regardless of its etiology. Chorea is usually classified as being primary (idiopathic, hereditary) or secondary (acquired).[movementdisorders.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Movement disorders in children are uncommon and thus are challenged by limited experience of pediatric care providers in the accurate diagnosis of etiology, correct characterization of the clinical phenotype, knowledge of pharmacologic interventions,[journals.lww.com]

Epidemiology

  • Epidemiologically, it is substantially more likely that this represents sporadic hypothyroidism than a partial phenotype attributed to maternal mosaicism for NKX2-1 . However, mosaicism cannot be excluded.[ng.neurology.org]
  • Objective: To evaluate the uptake of the HD genetic analysis in Spain, and to provide additional information on the epidemiology of this disease from the experience of 9 years of direct genetic testing.[jnnp.bmj.com]
  • Relevant External Links for NKX2-1 Genetic Association Database (GAD) NKX2-1 Human Genome Epidemiology (HuGE) Navigator NKX2-1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NKX2-1 No data available for Genatlas for NKX2-1 Gene A germline[genecards.org]
  • Epidemiology and management of liver metastases from colorectal cancer. Ann Surg. 2006;244:254-9. [ Abstract ][thegonzalezprotocol.com]
  • The epidemiology of BHC is uncertain as the disease is rare and symptoms can be subtle. A prevalence estimate from Wales was 1 per 500 000, but this was done prior to genetic testing and the prevalence thus remains uncertain [ 4 ].[cerebellumandataxias.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed.[books.google.com]
  • However, additional research, especially in the pediatric population, is warranted to further elaborate on the causality and pathophysiology of these neurological symptoms. Copyright 2017 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • PATHOPHYSIOLOGY Stiatum Pallidum ThalamusPC PR SN Cortex Cord Chorea DA GABA GABA GABA GABA 5.[slideshare.net]
  • The pathophysiology of tremor . Muscle Nerve 2001 ; 24 : 716 –735. 5. Wijdicks EFM , Parisi JE , Sharbrough FW . Prognosis value of myoclonus status in comatose survivors of cardiac arrest . Ann Neurol 1994 ; 35 : 239 –243. 6.[cambridge.org]

Prevention

  • §Associate professor, Department of Preventive Medicine, and assistant professor, Department of Medicine, University of Mississippi Medical Center.[nejm.org]
  • .  Striatal damage might prevent normal suppression of unwanted motor response to external stimuli Chorea 9. CAUSE OF CHOREA AND CHOREO-ATHETOSIS 1. Trauma 1. Concussion 2. Neoplasm 1. Primary brain tumor 2. Metastasis 3. CNS leukemia 3.[slideshare.net]
  • ANATOMY The striatum of the caudate nucleus and the putamen, projects to the globus pallidus and the substantia nigra: These latter two structures project to the thalamus, in an inhibitory manner, preventing excessive movement.[academic.sun.ac.za]
  • Pharmacologic treatment is the same as that prescribed for other choreatic disorder MEDICATION The goals of pharmacotherapy are to reduce morbidity and prevent complications.[endoflifecare.tripod.com]
  • Similar to HD and other diseases associated with CAG repeat expansions, DRPLA has also been associated with the formation of perinuclear aggregates that can be prevented by the use of transglutaminase inhibitors such as cystamine and monodansyl cadaverine[clinicalgate.com]

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