Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities  Tatsufumi Murakami, Yuta Fukai, Mitsue Rikimaru, Shoji Henmi, Yutaka Ohsawa, Yoshihide Sunada  Journal of the Neurological Sciences  Volume 291, Issue 1, Pages 121-123 (April 2010) DOI: 10.1016/j.jns.2009.12.011 Copyright © 2009 Elsevier B.V. Terms and Conditions

Fig. 1 Pedigree of a family with hereditary sensory ataxic neuropathy associated with proximal muscle weakness. Subjects with ataxia are indicated using solid boxes and unaffected individuals by open boxes. Squares represent men and circles women. Diagonal bars indicate dead family members. III-2 and III-3 are monozygotic twins. Journal of the Neurological Sciences 2010 291, 121-123DOI: (10.1016/j.jns.2009.12.011) Copyright © 2009 Elsevier B.V. Terms and Conditions

Fig. 2 Needle EMG findings in patient III-1. Multiple giant MUPs were observed mainly in the muscles of the lower extremities during voluntary contraction. Journal of the Neurological Sciences 2010 291, 121-123DOI: (10.1016/j.jns.2009.12.011) Copyright © 2009 Elsevier B.V. Terms and Conditions

Fig. 3 A: Transverse section of sural nerve stained by p-phenyldiamine (patient III-1). B: Teased fiber preparation of sural nerve (patient III-1). Thin myelinating fiber (1) and shortened Ranvier node (2) were observed. Journal of the Neurological Sciences 2010 291, 121-123DOI: (10.1016/j.jns.2009.12.011) Copyright © 2009 Elsevier B.V. Terms and Conditions