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Spino-Cerebellar Ataxia

Nickens CMN - MedPix (2007)

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Spino-Cerebellar Ataxia

History: Male, age 33: onset ataxia Age 36: onset visual disturbance Age 45: Diagnosis: ADCA II Age 48: wheelchair; Full (transfers) dependence at age 56, Impaired swallowing Family history: M +: - age 50: ataxia, macular degeneration - age 70: ‘severe restricted vision’ - age 80 MM:?+ Died at early age Sister -; Father, half-brother: - M: 4 Sisters-, 1 brother: -

Findings: age: 45: Clinical: ADCA II : non-pure cerebellar ataxia with visual disturbance age 50: DNA: mutation analysis: SCA7 (=ADCA II): CAG 42 repeats

Exam: Age 36: colour blindness for blue and yellow. Age 43: VOD 0.6, VOS: 0.6; Central scotoma, temp of optic nerve: atrophy. Red foveae. “retinitis pigmentosa”; ERG: reduced photopic reaction, normal scotopic reaction. Dark adaptation, EOG and VEP: normal Age 44: VOD 0.4, VOS: 0.4 Age 46: VOD 0.2, VOS: 0.3; Bull’s eye maculopathy Age 49: VOD 0.1 VOS: 0.16; Central field defect, macular pigmentary changes -> loss peripheral vision.

No MeSH data available.


Histology of a patient withSpino-Cerebellar Ataxia.
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Related In: Results  -  Collection

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MPX2248_synpic37854: Histology of a patient withSpino-Cerebellar Ataxia.


Spino-Cerebellar Ataxia

Nickens CMN - MedPix (2007)

Histology of a patient withSpino-Cerebellar Ataxia.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=MPX2248&req=5

MPX2248_synpic37854: Histology of a patient withSpino-Cerebellar Ataxia.

View Article: MedPix Image - MedPix Case

Affiliation: Uniformed Services University

ABSTRACT

Diagnosis: Spino-Cerebellar Ataxia

History: Male, age 33: onset ataxia Age 36: onset visual disturbance Age 45: Diagnosis: ADCA II Age 48: wheelchair; Full (transfers) dependence at age 56, Impaired swallowing Family history: M +: - age 50: ataxia, macular degeneration - age 70: ‘severe restricted vision’ - age 80 MM:?+ Died at early age Sister -; Father, half-brother: - M: 4 Sisters-, 1 brother: -

Findings: age: 45: Clinical: ADCA II : non-pure cerebellar ataxia with visual disturbance age 50: DNA: mutation analysis: SCA7 (=ADCA II): CAG 42 repeats

Exam: Age 36: colour blindness for blue and yellow. Age 43: VOD 0.6, VOS: 0.6; Central scotoma, temp of optic nerve: atrophy. Red foveae. “retinitis pigmentosa”; ERG: reduced photopic reaction, normal scotopic reaction. Dark adaptation, EOG and VEP: normal Age 44: VOD 0.4, VOS: 0.4 Age 46: VOD 0.2, VOS: 0.3; Bull’s eye maculopathy Age 49: VOD 0.1 VOS: 0.16; Central field defect, macular pigmentary changes -> loss peripheral vision.

No MeSH data available.