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541 Possible Causes for Mild Cerebellar Atrophy

  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    atrophy-intractable 404437 4 Casos seizures-progressive microcephaly syndrome Intellectual disability-obstructive sleep apnea-mild 412069 4 Casos dysmorphism syndrome due[] […] disability syndrome 398069 Prader-Willi syndrome due to point mutation 317428 Acute infantile liver failure-multisystemic 370088 involvement syndrome Leukoencephalopathy with mild[] cerebellar ataxia 363540 and white matter edema Severe neurodegenerative syndrome with 363400 lipodystrophy Nail and teeth abnormalities-marginal 423454 palmoplantar keratoderma-oral[]

  • Action Myoclonus - Renal Failure Syndrome

    MRI showed mild cerebellar atrophy on patient 1 and no changes on patient 2. Electroencephalogram was compatible with progressive myoclonic epilepsy.[] […] generalized atrophy (cerebral, cerebellar, upper cervical) Normal (depression) P03 M Canadian 22 25 28 22 23 24 34 Aspiration pneumonia Yes Inconstant photomyoclonic response[] […] cervical) Normal P02 F Australian 21 29 26 9 9 13, 17, 18 32 Adult respiratory distress syndrome Yes Diffuse generalized slowing and muscle artefact secondary to myoclonus MRI: mild[]

  • Autosomal Recessive Mental Retardation 5

    atrophy.[] The patient, born to first-degree consanguineous parents, lacked speech and exhibited severe hyperactivity, disruptive and self-harming behavior, a broad gait and mild cerebellar[]

  • Dystonia with Cerebellar Atrophy (DYTCA)

    He had a younger brother, who exhibited slight unsteadiness and mild cerebellar atrophy (appendix e-1 on the Neurology Web site at[] However, in contrast to the reported DYTCA patients, the rather mild cerebellar atrophy in our family was out of proportion to the marked progression of the ataxia.[]

  • Sea-blue histiocytosis

    Magnetic resonance imaging brain showed symmetrical leucoencephalopathy and mild cerebellar atrophy.[] Magnetic resonance imaging (MRI) of the brain showed global diffuse cerebral and mild cerebellar atrophy [Figure 1] .[] Figure 1: Magnetic resonance imaging of the brain showing global diffuse cerebral and mild cerebellar atrophy Click here to view Our second patient was a 23-year-old unmarried[]

  • Dentatorubral-Pallidoluysian Atrophy

    Interestingly, cranial magnetic resonance imaging performed on the more affected child revealed only mild cerebellar atrophy.[] […] cortex 13-42 61-84 Ataxin-3 (c) [ 47 ] SCA6 Cerebellar and mild brainstem atrophy 4-18 21-30 Calcium channel [ 48 ] Subunit (a1A) (m) SCA7 Photoreceptor and bipolar cells[] , cerebellar cortex, brainstem 7-17 37-130 Ataxin-7 (n) [ 49 ] SCA12 Cortical, cerebellar atrophy 7-32 41-78 Brain specific regulatory subunit of protein phosphatase PP2A[]

  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    Mild cerebellar atrophy in T2 weighted images and blooming of substantia nigra and globi pallidi in susceptibility weighted images were also observed.[] Neuroimaging showed mild cerebellar atrophy [Figure 1] a. Brainstem evoked response audiometry (BERA) showed sensorineural hearing loss.[] Figure 1: MRI images of the brain (a) T2-weighted sagittal section (Patient 1) showing mild cerebellar atrophy (b) T2-weighted axial section (Patient 2) showing hypointense[]

  • Cerebellar Ataxia - Neuropathy - Vestibular Areflexia Syndrome

    ; (D) parasagittal view of very mild cerebellar atrophy; (E) sagittal view of mild cerebellar atrophy; (F) parasagittal view of mild cerebellar atrophy; (G) sagittal view[] […] syndrome (CANVAS) (A) Sagittal view of very mild cerebellar atrophy; (B) parasagittal view of very mild cerebellar atrophy; (C) sagittal view of very mild cerebellar atrophy[] Neurology 76 May 31, 6 Figure 2 T1-weighted MRI illustrating the spectrum of cerebellar atrophy found in the cerebellar ataxia with neuropathy and bilateral vestibular areflexia[]

  • Brain Atrophy

    MRI of an adult and affected family member revealed slightly widened cerebral and cerebellar sulci, suggesting generalized brain atrophy, and mild cerebellar atrophy.[] Brain imaging shows cerebral and cerebellar atrophy (summary by Edvardson et al., 2017). (617672) MalaCards based summary : Neurodegeneration, Childhood-Onset, with Brain[] We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings[]

  • Autosomal Dominant Optic Atrophy and Cataract

    Brain MRI only showed mild cerebellar atrophy and MR spectroscopy was normal. Blood tests including serum lactate and pyruvate concentrations were normal.[]

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