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Spinocerebellar Ataxia with Axonal Neuropathy



  • 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]
  • Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.[monarchinitiative.org]
  • Author History Cornelius Boerkoel, MD, PhD (2007-present) Hok Khim Fam, BSc (2012-present) Ryuki Hirano, MD, PhD; Kagoshima University (2007-2012) Mustafa AM Salih, MD, Dr Med Sci, FRCPCH (2007-present) Hiroshi Takashima, MD, PhD (2007-present) Revision[ncbi.nlm.nih.gov]
  • Dysphagia is present and Rombergism and pseudoathetosis are observed. NCVs and nerve biopsy reveal demyelinating and axonal features. Anti-GD1b or GQ1b (consistently present) antibodies, IgM paraproteins and cold agglutinins are present.[neuroweb.us]
Weight Loss
  • Loss: Home Testing: o Home Weight Testing o Home Body Fat Testing (BMI) o Home Body Fat Monitoring o Home Fitness Testing * Diabetes: Related Home Testing: o Home Diabetes Tests o Home Blood Glucose Tests o Home Urine Glucose Tests o Home Urine Ketone[checkorphan.org]
  • Psychiatric symptoms are dysphoria, withdrawal, anxiety, depression, apathy, weight loss, hallucinations, suicidal ideation and mild insomnia.[neuroweb.us]
Heart Failure
  • Rouleau & Nicolas Dupré Cerebellum & Ataxias (2017) DNA single-strand break-induced DNA damage response causes heart failure Tomoaki Higo, Atsuhiko T.[nature.com]
  • In addition, progressive deafness, diabetes and heart failure resulting from cardiomyopathy are present in most cases.[neuroweb.us]
  • failure, and subaortic stenosis Skeletal findings - Pes cavus, scoliosis, and hammer toes Metabolic abnormalities - Abnormal glucose tolerance test results, diabetes mellitus, and diabetic ketoacidosis Laboratory findings Abnormal electrocardiographic[emedicine.medscape.com]
Restless Legs Syndrome
  • The book is divided into sections on Parkinson's disease, Huntington's disease, dystonia, tremor, paroxysmal movement disorders, ataxia, myoclonus, restless legs syndrome, drug-induced movement disorders, multiple system atrophy, progressive supranuclear[books.google.com]
  • legs syndrome with small-fiber neuropathy.[neuroweb.us]
Blurred Vision
  • When the nerves in your vestibular system wear away, you can have the following problems: Blurred vision and other eye issues Nausea and vomiting Problems standing and sitting Staggering when you walk Trouble walking in a straight line Vertigo, or dizziness[webmd.com]
Personality Change
  • Symptoms of cerebellar ataxia include: Behavior or personality changes Changes in your voice Dizziness Fatigue Headaches Low muscle tone Muscle tremors Slurred speech Trouble walking Wide gait Sensory Ataxia Sensory ataxia is the result of damage to nerves[webmd.com]
  • change characterized by a flattening or blunting affect, and disinhibited, inappropriate, or "giddy" behavior; (4) difficulty in interpreting and producing logical sequences, and (5) dysprosodia including language difficulties, mild anomia, and agrammatism[demneuropsy.com.br]


  • Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.[monarchinitiative.org]
  • All the three patients had mild hypercholesterolemia and borderline hypoalbuminemia.[cags.org.ae]
  • Testing Decreased serum concentration of albumin and increased serum concentration of cholesterol (hypercholesterolemia) may support the diagnosis of SCAN1 [ Takashima et al 2002 ]. Nerve biopsy confirms axonal neuropathy [ Takashima et al 2002 ].[ncbi.nlm.nih.gov]
Cholesterol Increased
  • Increased high-density lipoprotein cholesterol levels Low levels of LDL and VLDL Low triglyceride levels DNA mutation analysis Treatment High-dose supplementation of vitamin E has a beneficial effect on neurologic symptoms.[emedicine.medscape.com]


  • This is a quick-access, pocket-sized guide to the diagnosis and treatment of all major movement disorders.[books.google.com]
  • Consistent with earlier in vitro studies, we show that the H493R Tdp1 mutant protein retains residual activity and becomes covalently trapped on the DNA after CPT treatment of SCAN1 cells.[ncbi.nlm.nih.gov]
  • Active Clinical Trials related to Spinocerebellar Ataxia with Axonal Neuropathy We currently have no active trials listed for Spinocerebellar Ataxia with Axonal Neuropathy FREE TREATMENT REPORT Learn more about Spinocerebellar Ataxia with Axonal Neuropathy[healthetreatment.com]
  • To date, there are only symptomatic treatments for SCAN1; physical therapy may help maintain a more active lifestyle. The only reported SCAN1 patients are from an extended Saudi Arabian family with nine affected individuals.[cags.org.ae]


  • Home Testing: o Home Diabetes Tests o Home Blood Glucose Tests o Home Urine Glucose Tests o Home Urine Ketone Tests o Home Diabetes HbA1c Tests o Home Microalbumin Tests (Kidney) o Home Urine Protein Tests (Kidney) o Home Kidney Tests o Home Eye Tests Prognosis[checkorphan.org]
  • Favorable prognosis is indicated by preserved action potential preserved R1 or reappearance of R1 after 3 weeks. About 15% of patients will have permanent sequelae.[neuroweb.us]
  • Heterogeneous prognosis for hereditary motor and sensory neuropathy with proximal dominance. J Neurol Disord Stroke 1; 1006, 2013 Maeda K, Idehara R, Hashiguchi A, Takashima H.[higashiomi.hosp.go.jp]
  • This disorder also has a poor prognosis.[emedicine.medscape.com]


  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology • Degenerative – MSA, Progressive myoclonic epilepsy • Stroke – cerebellar, thalamic, brainstem, pontomedullary junction, lesions causing ataxic hemiparesis • Tumors- Medulloblastoma, Astrocytoma, Ependymoma, Hemangioblastoma, Metastasis, Meningioma[slideshare.net]
  • Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ].[e-jmd.org]
  • Moreover, increased intracellular Ca 2 , which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases.[emedicine.medscape.com]


  • Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.[disorders.eyes.arizona.edu]
  • In a review on the global epidemiology of hereditary ataxias published in this journal in 2014, it has been reported that spinocerebellar ataxia type 3 (SCA3) is considered to be absent in Italy [ 1 ].[karger.com]
  • Relevant External Links for TDP1 Genetic Association Database (GAD) TDP1 Human Genome Epidemiology (HuGE) Navigator TDP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TDP1 No data available for Genatlas for TDP1 Gene The crystal structure[genecards.org]
  • Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea.[e-jmd.org]
  • Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153. 33. Zawacki TM, Grace J, Friedman JH, Sudarsky L. Executive and emotional dysfunction in Machado-Joseph disease. Mov Disord 2002;17:1004-1010. 34.[demneuropsy.com.br]
Sex distribution
Age distribution


  • Academic clinicians, translational researchers and basic scientists are brought together to connect experimental findings made in different animal models to the clinical features, pathophysiology and treatment of human movement disorders.[books.google.com]
  • Our results suggest that the pathophysiology of tetraparesis in MFS differs from that in GBS. 2002 Wiley Periodicals, Inc.[scinapse.io]
  • In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis.[acnr.co.uk]
  • "Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12.[en.wikipedia.org]


  • Moreover, defects in processing or preventing double-strand breaks during DNA replication are most probably associated with increased genetic instability and cancer, phenotypes not observed in SCAN1 (ref. 8).[ncbi.nlm.nih.gov]
  • Prevention - Spinocerebellar ataxia- autosomal recessive- with axonal neuropathy Not supplied.[checkorphan.org]
  • Now, a team of researchers led by Sherif El-Khamisy from the University of Sussex and Ain Shams University in Cairo has found that the addition of a small ubiquitin-like modifier (SUMO) group to helps repair DNA damage, which might prevent cell death.[natureasia.com]
  • Moreover, defects in processing or preventing double-strand breaks during DNA replication are most probably associated with increased genetic instability and cancer, phenotypes not observed in SCAN1 (ref. 8 ).[nature.com]

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