J Neurol (2014) 261:1216–1217 DOI 10.1007/s00415-014-7330-y

LETTER TO THE EDITORS

A rare case of conjugal amyotrophic lateral sclerosis Enrica Bersano • Serena Servo • Roberto Cantello Letizia Mazzini



Received: 26 November 2013 / Revised: 23 March 2014 / Accepted: 24 March 2014 / Published online: 16 April 2014 Ó Springer-Verlag Berlin Heidelberg 2014

Dear Sirs, We report a case of conjugal amyotrophic lateral sclerosis (ALS) encountered in our tertiary ALS Centre. Family trees, possible environmental factors, and all known ALSassociated genes have been studied. The incidence of sporadic ALS ranges from 1.33 to 3.22 per 100,000, and the prevalence in Italy is 5.2 to 8.0 per 100,000 inhabitants [1]. Our patients lived in the Piedmont Region, in Northern Italy, where the incidence is 2.90/100,000 population, and the prevalence is 7.89 to 8.00/100,000 [2]. Since ALS is such a rare disease, chances of conjugal ALS are extremely low, estimated to be about 1 in 510,000 couples. To our knowledge only 20 cases have been reported of both spouses suffering from ALS [3–5]. In 2005, a 63-year-old man was diagnosed with spinal onset ALS after presenting with a two-year history of widespread fasciculations and progressive gait impairment. On neurological examination we found diffuse spontaneous fasciculations, moderate atrophy and weakness of limbs, with tendon hyperreflexia and Babinski sign. Electromyography (EMG) revealed diffuse fasciculation potentials and motor unit action potentials on voluntary activation, with complex and unstable morphology in all sampled upper and lower limb muscles. Transcranial magnetic stimulation detected a delay of the central motor conduction time in upper and lower limbs. The patient was a blacksmith, but serum and urinary heavy-metal concentrations were normal. Endocrine, paraneoplastic, autoimmune, and infective panels and cerebral spinal fluid results

E. Bersano (&)  S. Servo  R. Cantello  L. Mazzini Department of Neurology, ALS Center, Eastern Piedmont University, Maggiore della Carita` Hospital, Novara, Italy e-mail: [email protected]

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were also normal. He died of respiratory failure five years after initial presentation. Three years later, his 68-year-old non-consanguineous wife presented to our clinic with dysphonia, dyspnea at rest, and orthopnea. She was a saleswoman and had no contact with the husband’s workshop. Neurological examination demonstrated mild wasting and fasciculations of the tongue, and neck weakness. Widespread fasciculations were detected also in the limbs. Deep tendon reflexes were increased. The patient’s laboratory tests and MRI of the brain and spinal cord were normal. EMG showed diffuse involvement of the lower motor neuron in the limb and bulbar muscles, while electroneurography was normal. Pulmonary function was assessed, revealing a forced vital capacity of 45 %. The diagnosis of ALS with bulbar onset was confirmed, and she is still alive with noninvasive ventilation support. The patients were born in the same town of about 20,000 inhabitants, located in a rural area of the Piedmont region, and they lived there together for 30 years. In this area no cases of familiar ALS have been reported, and the incidence of the disease does not differ from that in other areas of the Piedmont region. Family trees of both patients, built from the second generation back (Fig. 1), established that the two subjects were not related and that no relative was ever affected by neurodegenerative disease. Both patients were screened for known ALS-associated genes (C9orf72; SOD1; TDP_43; FUS; Ataxin-2; uBQN2 ex4; PFN), and no mutations were detected. No common exposures were identified in regard to exogenous and environmental toxins such as radiation, food-borne pathogens, cosmetics, drugs, pesticides in agricultural environments; nor were there exposure risks from smoking, intense physical activity, or trauma.

J Neurol (2014) 261:1216–1217

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Fig. 1 Patients’ family trees. They are not consanguineous, and no relative in either family was affected by neurodegenerative disease

In summary, the couple presented with different forms of ALS: the husband was affected by spinal ALS, while his wife by bulbar onset ALS. They were not consanguineous, and we found no genetic mutation of the known ALSassociated genes responsible for the disease. Moreover, no ALS or other neuro-degenerative diseases were found in relatives. Additionally, no common environmental factors have been identified. Therefore, we concluded that our case of conjugal ALS is a chance association. Conflicts of interest On behalf of all authors, the corresponding author states that there is no conflict of interest. Ethical standards We declare that we got appropriate informed consent from the patients and respect their confidentiality and anonymity. We declare that our study has been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki.

References 1. Chio` A, Logroscino G, Traynor BJ, Collins J, Simeone JC, Goldstein LA, White LA (2013) Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology 41(2):118–130 2. Chio` A, Mora G, Calvo A, Mazzini L, Bottacchi E, Mutani R, PARALS (2009) Epidemiology of ALS in Italy: a 10-year prospective population-based study. Neurology 72(8):725–731 3. Dewitt JD, Kwon J, Burton R, Stroup JS (2012) Conjugal amyotrophic lateral sclerosis. Proc (Bayl Univ Med Cent) 25(1):31–33 4. Chio` A, Herrero Hernandez E, Discalzi G, Ghiglione P, Di Vito N, Calvo A, Vercellino M, Plano F, Mutani R (2001) Conjugal amyotrophic lateral sclerosis: suggestion for the implication of environmental factors. Amyotroph Later Scler Other Motor Neuron Disord 2(3):165–166 5. Poloni M, Micheli A, Facchetti D, Mai R, Ceriani F, Cattalini C (1997) Conjugal amyotrophic lateral sclerosis: toxic clustering or change? Ital J Neurol Sci 18(2):109–112

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A rare case of conjugal amyotrophic lateral sclerosis.

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