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Title	Autosomal recessive spastic ataxia of Charlevoix-Saguenay with prominent nervous fibers of the optic nerve head. A case report
Abstract Nr.	P16

Purpose	To present a case of "autosomal recessive spastic ataxia of Charlevoix-Saguenay" with prominent fibers of the optic nerve head.
Methods	Ophtalmological, neurological and radiologic findings are described in a 27 year-old man with spastic ataxia of early onset, sensorimotor neuropathy, nystagmus and slurred speech.
Results	The spastic ataxia showed a non-progressive evolution. The ophtalmological work-up revealed prominent nervous retinal fibers of the optic nerve head. The cerebral MRI showed cerebellar atrophy.
Conclusion	Our patient shows the three main clinical signs of the "autosomal recessive spastic ataxia of Charlevoix-Saguenay". This case put emphasis on the importance of the fundus examination which makes it possible to distinguish this rare disease from other forms of autosomal recessive spastic ataxia, in particular Friedreich disease.

Author 1

Last name	LADHA
Initials	R
Department	Erasme Hospital
City	Brussels

Author 2

Last name	DE WINDT
Initials	A
Department	Erasme Hospital
City	Brussels

Author 3

Last name	ABRAMOWICZ
Initials	M
Department	Erasme hospital
City	Brussels

Author 4

Last name	CORDONNIER
Initials	M
Department	Erasme Hospital
City	Brussels