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15 Possible Causes for Dysdiadochokinesis, Malabsorption Syndrome, Mutation in the WWOX Gene

  • Autosomal Recessive Spinocerebellar Ataxia

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] The clinical features comprise the malabsorption syndrome, the pigmentary degeneration of the retina and progressive ataxic neuropathy.[wjgnet.com] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] The clinical features comprise the malabsorption syndrome, the pigmentary degeneration of the retina and progressive ataxic neuropathy.[wjgnet.com] […] hemisphere) Neocerebellum Connected with Pons and cortex through thalalmus Planning and initiation of movements Regulation of fine limb movements Limb ataxia: Dysmetria, Dysdiadochokinesis[slideshare.net]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[cerebellumandataxias.biomedcentral.com] Abetalipoproteinemia (Bassen-Kornzweïg syndrome) is also associated with ataxia and retinal dystrophy. 10 However, other common findings, such as acanthocytosis, malabsorption[synapse.koreamed.org] 29 See the list below: Clinical features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis[emedicine.medscape.com]

  • Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[ncbi.nlm.nih.gov] […] malnutrition) or a malabsorption syndrome (indicated by weight loss, steatorrhoea and oedema secondary to hypoalbuminemia).[dx.doi.org] Nystagmus; Vestibulo-ocular reflex (VOR) Postural and gait dysfunction Midline (Vermis; paleocerebellum)Truncal & gait ataxia Hemisphere (Neocerebellum)Limb ataxia: Dysmetria, Dysdiadochokinesis[neuromuscular.wustl.edu]

  • Autosomal Recessive Spastic Paraplegia Type 48

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Symptoms are similar to those observed in patients with FA, but are also associated with a malabsorption syndrome, with hypocholesterolaemia and deficiencies of fat-soluble[elsevier.es] Gait was spastic–ataxic, and he had dysdiadochokinesis in both hands. Strength, coordination, and sensation were normal on bedside examination.[ng.neurology.org]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Malabsorption syndromes of various causes may also cause ataxia late in the disease course.[ncbi.nlm.nih.gov] Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Mild hearing impairment Ranula Scoliosis Retinal degeneration Progressive visual loss Inability to walk Dysdiadochokinesis[mendelian.co]

  • Autosomal Recessive Spastic Paraplegia Type 14

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Symptoms are similar to those observed in patients with FA, but are also associated with a malabsorption syndrome, with hypocholesterolaemia and deficiencies of fat-soluble[elsevier.es] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] The clinical features comprise the malabsorption syndrome, the pigmentary degeneration of the retina and progressive ataxic neuropathy.[wjgnet.com] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Thyroid GI disorders Celiac disease; Sprue Vitamin E malabsorption Whipple's Toxins & Drugs Trauma Vascular Vestibular 14.[slideshare.net] Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M タイトル The tumour suppressor gene[genome.jp]

  • Autosomal Recessive Spastic Paraplegia Type 23

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Symptoms are similar to those observed in patients with FA, but are also associated with a malabsorption syndrome, with hypocholesterolaemia and deficiencies of fat-soluble[elsevier.es] The patient developed dysdiadochokinesis, but no cerebellar ocular signs were noted.[omicsonline.org]

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