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Table 2 Additional clinical features in patients with histologically suspected or genetically confirmed mitochondrial disease

From: Mitochondrial pathology in progressive cerebellar ataxia

  Patient groups
Histologically suspected mitochondrial disease without genetic confirmation Genetically confirmed mitochondrial disease Unlikely mitochondrial disease remaining patients
Total 21/126 (17 %) 11/126 (9 %) 94/126 (75 %)
Family History 12/21 (57 %) 2/11 (18 %) 36/94 (38 %)
Autosomal recessive 5/21 (24 %) 0/11 (0 %) 16/94 (17 %)
Autosomal dominant 3/21 (14 %) 1/11 (9 %) 10/94 (11 %)
Maternal 4/21 (19 %) 1/11 (9 %) 10/94 (11 %)
No Family History 9/21 (43 %) 9/11 (82 %) 58/94 (62 %)
Pure Ataxia 3/21 (14 %) 0/11 (0 %) 21/94 (22 %)
Ataxia Plus (Associated features) 18/21 (86 %) 11/11 (100 %) 73/94 (78 %)
Neurological    
Deafness 3/21 (14 %) 5/11 (45 %) 19/94 (20 %)
Dysphagia 0/21 (0 %) 2/11 (18 %) 0/94 (0 %)
Developmental problems 1/21 (5 %) 2/11 (18 %) 11/94 (12 %)
Cognitive deficits 2/21 (10 %) 2/11 (18 %) 6/94 (6 %)
Dystonia 2/21 (10 %) 0/11 (0 %) 2/94 (2 %)
Myoclonus 2/21 (10 %) 3/11 (27 %) 14/94 (15 %)
Epilepsy 2/21 (10 %) 2/11 (18 %) 12/94 (13 %)
Peripheral neuropathy 5/21 (24 %) 1/11 (9 %) 21/94 (22 %)
Spastic paraparesis 7/21 (33 %) 2/11 (18 %) 7/94 (7 %)
Myopathy 2/21 (10 %) 1/11 (9 %) 8/94 (9 %)
Endocrine    
Impaired glycaemia/DM 1/21 (5 %) 3/11 (27 %) 8/94 (9 %)
Ocular    
Ptosis 0/21 (0 %) 0/11 (0 %) 3/94 (3 %)
Ophthalmoplegia 0/21 (0 %) 1/11 (9 %) 6/94 (6 %)
Optic atrophy 0/21 (0 %) 1/11 (9 %) 2/94 (2 %)
Retinitis pigmentosa 0/21 (0 %) 2/11 (18 %) 2/94 (2 %)
Other    
Short stature 1/21 (5 %) 1/11 (9 %) 1/94 (1 %)
Nephropathy 0/21 (0 %) 1/11 (9 %) 1/94 (1 %)