Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia

Neurogenetics

Volumn 11, Issue 2, 2010, Pages 261-265

  Diehl, Beate ^a   Lee, Michael S ^b   Reid, Janet R ^c   Nielsen, Craig D ^c   Natowicz, Marvin R ^c  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b UNIVERSITY OF MINNESOTA   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Atypical Friedreich ataxia; Frataxin; Mitochondrial; Optic atrophy; Variant Friedreich ataxia

Indexed keywords

FRATAXIN;

ADULT; ANHIDROSIS; ARTICLE; BABINSKI REFLEX; BLINDNESS; BRAIN; BRAIN STEM; CASE REPORT; CEREBELLUM; CERVICAL SPINAL CORD; CLINICAL EVALUATION; COGNITIVE DEFECT; COLD LIMB; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DISEASE COURSE; DYSMETRIA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAM; EPISODIC COMPLETE BLINDNESS; ESOPHAGITIS; EYE FUNDUS; FAMILY HISTORY; FATIGUE; FRIEDREICH ATAXIA; GASTROESOPHAGEAL REFLUX; GENE MUTATION; HAND PARESTHESIA; HARRINGTON INSTRUMENTATION; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; INTRON; LABORATORY TEST; LIMB WEAKNESS; MALE; MEDULLA OBLONGATA; MISSENSE MUTATION; MYOPIA; NEUROIMAGING; NEUROOPHTHALMOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC CHIASM; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SCOLIOSIS; SENSORY NEUROPATHY; SKIN INFLAMMATION; SPASTIC PARESIS; SPASTICITY; THORACOLUMBAR SPINE; URINARY URGENCY; VISUAL ACUITY; VISUAL DISORDER; VISUAL IMPAIRMENT; WHEELCHAIR;

ADULT; BLINDNESS; BRAIN; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MALE; OPTIC NERVE; PHENOTYPE;

EID: 77954660723     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0233-x     Document Type: Article

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