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A 35 year old man with progressive cerebellar syndrome and abnormal eye movements Submitted to  AskTheNeurologist.Com   in 2007 Author Anon.
History ,[object Object],[object Object],[object Object]
History 2 ,[object Object],[object Object],[object Object],[object Object]
History III ,[object Object],[object Object],[object Object]
History IV ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Examination ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Examination II ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Clinical summary ,[object Object],[object Object],[object Object],[object Object],[object Object]
Investigations to date ,[object Object],[object Object],[object Object],[object Object]
Biochemistry ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Biochemistry II ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Vitamins ,[object Object],[object Object],[object Object],[object Object]
Microbiology ,[object Object],[object Object]
CSF ,[object Object],[object Object]
Histopathology ,[object Object],[object Object],[object Object]
Electrophysiology ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Imaging ,[object Object],[object Object],[object Object],[object Object],[object Object]
Genetics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Investigations pending ,[object Object],[object Object],[object Object]
 
 
 
 
Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect  FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
 
 
 
 
 
 
Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect  FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
Progressive myoclonic epilepsy ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect  FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
Inherited ataxias with known metabolic defect ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Niemann-Pick C   ,[object Object],[object Object],[object Object],[object Object]
Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect  FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
 
 
 
 
 
 
 
 
 
Summary ,[object Object],[object Object],[object Object],[object Object]
 
Submitted to  AskTheNeurologist.Com   in 2007 Author Anon.

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Progressive cerebellar syndrome:- Case Discussion

  • 1. A 35 year old man with progressive cerebellar syndrome and abnormal eye movements Submitted to AskTheNeurologist.Com in 2007 Author Anon.
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  • 24. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  • 25.  
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  • 29.  
  • 30.  
  • 31. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  • 32.
  • 33. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  • 34.
  • 35.
  • 36. Cerebellar Ataxias Primary Secondary Infectious Immune / inflammatory Toxic Metabolic / nutrional (acquired) Neoplastic Paraneoplastic Vascular Anatomical “ Sporadic” Inherited MSA-C “ apparently sporadic” Early onset < 20 years Late onset > 20 years Known metabolic defect FRDA EOCA with ret. Reflexes AT PME’s Mitochondrial ADCA’s (“SCA”) FRDA (occ. Late onset) DRPLA Mitochondrial FXTAS
  • 37.  
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  • 47.  
  • 48. Submitted to AskTheNeurologist.Com in 2007 Author Anon.