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7 Possible Causes for Cerebellar Signs during Episodes, Reduced Penetrance (Approximately 87%)

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  • Familial Hemiplegic Migraine Type 2

    J Biol Chem. 2008 Nov 7;283(45):31097-106. doi: 10.1074/jbc.M802771200. Epub 2008 Aug 26. Abstract Mutations in ATP1A2, the gene coding for the Na( )/K( )-ATPase alpha(2)-subunit, are associated with both familial hemiplegic migraine and sporadic cases of hemiplegic migraine. In this study, we examined the functional[…][]

  • Hemiballismus

    Spinal cord compression was not a likely cause of our patient symptoms as he was also having slurred speech, blurry vision and signs of cerebellar dysfunction during episodes[]

    Missing: Reduced Penetrance (Approximately 87%)
  • Endocarditis

    In rheumatic, atheromatous, or calcific heart disease, organisms may become trapped in diseased valves or mural plaques during episodes of bacteremia or fungemia.[] Less usual manifestations of IE include: Cerebral complications presenting as stroke, cerebellar signs, changing level of consciousness Gastrointestinal manifestations such[]

    Missing: Reduced Penetrance (Approximately 87%)
  • Lactic Acidosis

    […] and brain‐stem signs presenting during infancy Basal ganglia lucencies Mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS) Stroke‐like episodes[] […] visual failure Males: females approx. 4:1 Median age of onset 24 years Dystonia Cardiac pre‐excitation syndromes Leigh syndrome (LS) Subacute relapsing encephalopathy with cerebellar[]

    Missing: Reduced Penetrance (Approximately 87%)
  • Meckel Syndrome

    sign , hypotonia , developmental delay .[] Episodic tachypnea or apnea and/or atypical eye movements often accompany these findings.[] Detailed clinical description Classic Joubert syndrome is characterized by three primary findings: a distinctive cerebellar and brain stem malformation called the molar tooth[]

    Missing: Reduced Penetrance (Approximately 87%)
  • Hartnup Disease

    However, some people with Hartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements ( cerebellar[] For most affected individuals, this is the only sign of the condition.[] These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever.[]

    Missing: Reduced Penetrance (Approximately 87%)
  • Classic Paraneoplastic Limbic Encephalitis

    No fresh episode of seizure occurred during this period.[] At 3-month follow-up, patient showed significant improvement in cognitive status, rigidity, cerebellar signs and symptoms, and also requirement of insulin has been decreased[]

    Missing: Reduced Penetrance (Approximately 87%)

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