Familial Madras motor neuron disease (FMMND): Study of 15 families from southern India A. Nalini a, ⁎ , B.K. Yamini b , N. Gayatri c , K. Thennarasu d , R. Gope e a Department of Neurology, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore-560 029, India b Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences, Bangalore, India c Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India d Department of Biostatistics, National Institute of Mental Health and Neurosciences, Bangalore, India e Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bangalore, India Received 19 September 2005; received in revised form 29 June 2006; accepted 14 August 2006 Available online 28 September 2006 Abstract Madras motor neuron disease (MMND) and Madras motor neuron disease variant (MMNDV) have an unique geographic distribution with concentration of majority of cases in the southern states of India. They have the characteristic features of onset in young, weakness and wasting of the limbs, multiple cranial nerve palsies particularly involving the 7th, 9th to 12th and sensorineural hearing impairment. In addition, all patients with MMNDV have bilateral optic atrophy. During the past 32 years, a total of 104 patients were diagnosed to have MMND and among these 25 patients with the familial form were further evaluated. In this report, we describe the clinical features of these 25 patients diagnosed to have familial Madras motor neuron disease (FMMND) or familial Madras motor neuron disease variant (FMMNDV), belonging to 15 families hailing from southern India. There were 10 patients diagnosed to have FMMND and 15 with FMMNDV. There were 14 males and 11 females with mean age at onset of 13.0±6.2 years and mean duration of illness of 73.6±74.0 months. Notably, the occurrence of MMNDV in the familial group (15 of 25 patients) was significantly more as compared to occurrence in the group with sporadic MMND (SMMND) [12 of 79 patients] (p = 0.0002). © 2006 Elsevier B.V. All rights reserved. Keywords: Familial Madras motor neuron disease; Southern India 1. Introduction Madras motor neuron disease (MMND) was first reported in 1970 by Meenakshisundaram et al. from Madras located in southern India. This disorder occurs in the young with clinical features of wasting and weakness of the limbs, involvement of facial and bulbar muscles, pyramidal dysfunction and associated sensorineural deafness [1]. Later in 1973, this syndrome was again described in 29 patients by the same group [2]. In 1988, Gourie-Devi and Suresh reported this syndrome in 11 cases [3]. Patients with MMND have also been documented from other cities in India including Bangalore and Vellore in south, Mumbai in west and Kolkata in the east [4–7]. In addition, there are isolated reports of patients with MMND reported from Thailand and Italy [8,9]. However, family history of similar illness was not encountered in the patients included in all these previous reports. Recently, we have reported seven patients with Madras motor neuron disease variant (MMNDV) from a group of 54 cases of MMND [10]. Of these seven patients, two had a positive family history and among the remaining 47 cases another two had history of similar illness in the siblings. In this present study, we report in detail the clinical features and inheritance pattern of familial Madras motor neuron disease (FMMND) in 25 patients from 15 families. Journal of the Neurological Sciences 250 (2006) 140 – 146 www.elsevier.com/locate/jns ⁎ Corresponding author. Tel.: +91 80 26995139; fax: +91 80 26564830. E-mail addresses: nalini@nimhans.kar.nic.in, atchayaramnalini@yahoo.co.in (A. Nalini). 0022-510X/$ - see front matter © 2006 Elsevier B.V. All rights reserved. doi:10.1016/j.jns.2006.08.010