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59 Possible Causes for Caused by Mutation in the Dopa Decarboxylase Gene, 'Eye of the Tiger' Sign on MRI, Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)

Did you mean: Caused by Mutation in the Dopa Decarboxylase Gene, 'Eye of the Tiger' Sign on MRI, Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical

  • Aromatic L-Amino Acid Decarboxylase Deficiency

    decarboxylase; DDC) is an autosomal recessive disease caused by a mutation in the DDC gene which codes for aromatic-L-aminoacid decarboxylase.[smpdb.ca] […] of the tigersign on MRI.[invitae.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Hallervorden-Spatz Syndrome

    Iron deposition in conjunction with destruction of the globus pallidus gives rise to the characteristic eye-of-the-tiger sign in MRI.[ncbi.nlm.nih.gov] […] of the tiger" sign.[ncbi.nlm.nih.gov] It has been postulated that pantothenate kinase 2 mutations underlying all cases of classic Hallervorden-Spatz syndrome are always associated with the eye-of-the-tiger sign[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Neurodegeneration with Brain Iron Accumulation

    Individuals with PKAN and HARP syndrome, which is considered part of the PKAN disease spectrum, show a characteristic "eye of the tiger''sign on MRI, a central region of hyperintensity[orpha.net] sign in cranial MRI, this case most likely represented an idiopathic form of NBIA but atypical PKAN may be also considered.[ncbi.nlm.nih.gov] For all of the disorders in this category, T 2 -weighted brain MRI would distinguish PKAN based on the presence of the "eye of the tiger" sign.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • X-linked Parkinsonism-Spasticity Syndrome

    T2-weighted fast spin echo (G) and T1-weighted (H) brain MRI scans from a child with PKAN demonstrating the "eye of the tiger" sign (courtesy of Susan J.[ojrd.biomedcentral.com] T2 weighted brain MRI shows an ”eye of the tigersign corresponding to pallidal hypointensity with a high signal center.[neuroweb.us] Onset can be later, with more rigidity in atypical forms of PKAN [ 12 ], but the typical MRI findings of the "eye of the tiger" sign suggest the diagnosis.[ojrd.biomedcentral.com]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • McLeod Neuroacanthocytosis Syndrome

    […] of the tiger" sign on MRI characteristic Pigmentary retinopathy PRNP HDL1 (OMIM 603218 ) AD Phenotype may be indistinguishable from HD.[ncbi.nlm.nih.gov] Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without ‘eye-of-the-tigersign on MRI in a pair of siblings.[e-jmd.org] […] prominent speech defects, psychiatric disturbance, & more gradual disease progression In 8%: acanthocytosis Usually childhood or adolescent onset Basal ganglia iron deposition "Eye[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Benign Adult Familial Myoclonic Epilepsy

    T2 weighted brain MRI shows an ”eye of the tigersign corresponding to pallidal hypointensity with a high signal center.[neuroweb.us]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Mitochondrial Membrane Protein-Associated Neurodegeneration

    None of our pa-tients exhibited the eye of the tiger sign on T2-weighted MRI.[docslide.net] MRI showed iron deposition in the globus pallidus and substantia nigra without the eye-of-the-tiger sign, which is typical for PKAN, the most frequent form of NBIA.[push-zb.helmholtz-muenchen.de] MRI showed iron deposition in the globus pallidus and substantia nigra without the eye‐of‐the‐tiger sign, which is typical for PKAN, the most frequent form of NBIA. 2012 Movement[ingentaconnect.com]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Juvenile Paralysis Agitans of Hunt

    Parkinsonismo precoce associado a lesões palidais de tipo "eye-of-the-tiger" "Eye-of-the-tiger" sign at MRI in a patient with early-onset parkinsonism Egberto Reis Barbosa[scielo.br]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Jankovic Rivera Syndrome

    Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without ‘eye-of-the-tigersign on MRI in a pair of siblings.[e-jmd.org] T1WI showed hyperintensity in all cases of HSS in addition to the “eye‐of‐the‐tigersign on T2WI.[doi.org] Conclusion MRI showed prominent signal abnormalities in the GP bilaterally in HSS.[doi.org]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)
  • Degenerative Disorder

    […] of the tigersign on MRI brains scan and PANK2 mutations; secondly, a group of clinically atypical cases which did not have PANK2 mutations nor the “eye of the tiger sign[jmg.bmj.com] ” but did have hypodensity in the globus pallidus on T2 weighted MRI brain scans, cerebellar atrophy, and often evidence of iron deposition in the red nucleus and dentate[jmg.bmj.com] Hallervorden-Spatz syndrome 13 ) or atypical features with acanthocytosis, hypoprebetalipoproteinaemia and/or orofacial dyskinesia (known as HARP syndrome 14– 16 ) but all with the “eye[jmg.bmj.com]

    Missing: Caused by Mutation in the Dopa Decarboxylase Gene Increased Urinary Dopamine and Dopamine Metabolites (Paradoxical)