Research Article| Volume 160, ISSUE 1, P33-40, September 18, 1998

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Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions


      Female monozygotic twins developed upper and lower limb neurogenic weakness in their thirties, followed by cerebellar ataxia, dysarthria and death after an illness duration of about 20 years. Autopsy revealed pathological features typical of neuronal intranuclear inclusion disease (NIID) and positive ubiquitin immunostaining of the inclusions. Two adult sons of one of the twins have now developed an identical illness. This family provides strong evidence of an hereditary form of NIID.


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        • Barnett J.L
        • McDonnell W.M
        • Appelman H.D
        • Dobbins W.O
        Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy.
        Gastroenterology. 1992; 102: 684-691
        • Davies S.W
        • Beardsall K
        • Turmaine M
        • DiFiglia M
        • Aronin N
        • Bates G.P
        Are neuronal intranuclear inclusions the common neuropathology of triplet repeat disorders with polyglutamine-repeat expansions?.
        Lancet. 1998; 351: 131-133
        • Funata N
        • Maeda Y
        • Koike M
        • et al.
        Neuronal intranuclear hyaline inclusion disease: report of a case and review of the literature.
        Clin Neuropathol. 1990; 9: 89-96
        • Garen P.D
        • Powers J.M
        • Young G.F
        • Lee V
        Neuronal intranuclear hyaline inclusion disease in a nine year old.
        Acta Neuropathol (Berl). 1986; 70: 327-332
        • Goutières F
        • Mikol J
        • Aicardi J
        Neuronal intranuclear inclusion disease in a child: diagnosis by rectal biopsy.
        Ann Neurol. 1990; 27: 103-106
        • Haltia M
        • Somer H
        • Palo J
        • Johnson W.G
        Neuronal intranuclear inclusion disease in identical twins.
        Ann Neurol. 1984; 15: 316-321
        • Janota I
        Widespread intranuclear corpuscles (Marinesco bodies) associated with a familial spinal degeneration with cranial and peripheral nerve involvement.
        Neuropathol Appl Neurobiol. 1979; 5: 311-317
        • Katsuragi S
        • Eto K
        • Takeya M
        One autopsy case presenting a variety of neurological disorders such as oculogyric crises and kinesia paradoxale in conjunction with numerous neuronal intranuclear eosinophilic inclusions.
        Neuropathology (Tokyo). 1981; 2: 63
        • Lindenberg R
        • Rubinstein L.J
        • Herman M.M
        • Haydon G.B
        A light and electron microscopy study of an unusual widespread nuclear inclusion body disease.
        Acta Neuropathol (Berl). 1968; 10: 54-73
        • Lowe J
        • McDermott H
        • Landon M
        • Mayer R.J
        • Wilkinson K.D
        Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.
        J Pathol. 1990; 161: 153-160
        • Malandrini A
        • Fabrizi G.M
        • Cavallaro T
        • et al.
        Neuronal intranuclear inclusion disease: polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case.
        Acta Neuropathol. 1996; 91: 215-218
        • Michaud J
        • Gilbert J.J
        Multiple system atrophy with neuronal intranuclear hyaline inclusions.
        Acta Neuropathol (Berl). 1981; 54: 113-119
        • Munoz-Garcia D
        • Ludwin S.K
        Adult-onset neuronal intranuclear hyaline inclusion disease.
        Neurology. 1986; 36: 785-790
        • Oyer C.E
        • Cortez S
        • O'Shea P
        • Popovic M
        Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report.
        Hum Pathol. 1991; 22: 722-724
        • Palo J
        • Haltia M
        • Carpenter S
        • Karpati G
        • Mushynski W
        Neurofilament subunit-related proteins in neuronal intranuclear inclusions.
        Ann Neurol. 1984; 15: 322-328
        • Parker J.C
        • Dyer M.L
        • Paulsen W.A
        Neuronal intranuclear inclusion disease associated with premature coronary atherosclerosis.
        J Clin Neuroophthalmol. 1987; 7: 244-249
        • Patel H
        • Norman M.G
        • Perry T.L
        • Berry K.E
        Multiple system atrophy with neuronal intranuclear hyaline inclusions.
        J Neurol Sci. 1985; 67: 57-65
      1. Ruszkiewicz A, Opeskin K, Anderson R McD, Chow CW. Generalised nuclear and cytoplasmic inclusion disease: a rare case investigated by microscopy and immunohistochemistry. Acta Neuropathol 1994;87:648–54.

        • Schuffler M.D
        • Bird T.D
        • Sumi S.M
        • Cook A
        Familial neuronal disease presenting as intestinal pseudoobstruction.
        Gastroenterology. 1978; 75: 889-898
        • Sloane A.E
        • Becker L.E
        • Ang L.C
        • Wark J
        • Haslam R.H
        Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia.
        Pediatr Neurol. 1994; 10: 61-66
        • Soffer D
        Neuronal intranuclear hyaline inclusion disease presenting as Friedreich's ataxia.
        Acta Neuropathol (Berl). 1985; 65: 322-329
        • Sung J.H
        • Ramirez-Lassepas M
        • Mastri A.R
        • Larkin S.M
        An unusual degenerative disorder of neurons associated with a novel intranuclear hyaline inclusion (neuronal intranuclear hyaline inclusion disease).
        J Neuropathol Exp Neurol. 1980; 39: 107-130
        • Tateishi J
        • Nagara H
        • Ohta M
        • Matsumoto T
        • Fukunaga H
        • Shida K
        Intranuclear inclusions in muscle, nervous tissue and adrenal gland.
        Acta Neuropathol (Berl). 1984; 63: 24-32
        • Waggener J.D
        • Beggs J
        • Sidell A.D
        Virus-like filaments in juvenile parkinsonism.
        J Neuropathol Exp Neurol. 1972; 31: 187
        • Weidenheim K.M
        • Dickson D.W
        Intranuclear inclusion bodies in an elderly demented woman: a form of intranuclear inclusion body disease.
        Clin Neuropathol. 1995; 14: 93-99