1. Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia
- Author
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G Castelnovo, M Schmitt, B Biolsi, P Labauge, and A Barbaud
- Subjects
Adult ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Ataxia ,Neurological examination ,Neurological disorder ,Book Review ,Physical medicine and rehabilitation ,Correspondence ,medicine ,Humans ,Sensory symptoms ,Spasticity ,Letters to the Editor ,medicine.diagnostic_test ,Proprioception ,business.industry ,Spastic paraparesis ,medicine.disease ,Clonus ,Psychiatry and Mental health ,Friedreich Ataxia ,Paraparesis, Spastic ,Surgery ,Female ,Neurology (clinical) ,medicine.symptom ,business - Abstract
Friedreich's ataxia is the most common hereditary ataxia. This neurological disorder was initially defined by the association of ataxia, cerebellar syndrome, and pyramidal signs. Atypical forms are increasingly recognised. The gene was mapped to 9q13-q21.1 in 1988 and identified in 1996. We report on a patient with a spastic paraparesis, of which molecular analysis confirmed the diagnosis of Friedreich's ataxia. A 39 year old woman without any past condition presented with difficulty in walking since the age of 20. Neurological examination showed a spastic paraparesis, with tetrapyramidal signs, including generalised brisk reflexes, bilateral Babinski's signs, and clonus at the knees and ankles. Spasticity only concerned the lower limbs and spared the arms. Spastic paraparesis resulted in impaired walking at the time of the examination. No other neurological abnormalities were found; notably, proprioception and vibration sense, and cerebellar function were normal. No sensory symptoms were noted. No skeletal deformities were found. All hematological investigations (including …
- Published
- 2000