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.

[1]  J. Lowe,et al.  Ubiquitin carboxyl‐terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases , 1990, The Journal of pathology.

[2]  Parker Jc,et al.  Neuronal intranuclear hyaline inclusion disease associated with premature coronary atherosclerosis. , 1987 .

[3]  J. Palo,et al.  Neuronal intranuclear inclusion disease in identical twins , 1984, Annals of neurology.

[4]  D W Dickson,et al.  Intranuclear inclusion bodies in an elderly demented woman: a form of intranuclear inclusion body disease. , 1995, Clinical neuropathology.

[5]  M. Popović,et al.  Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. , 1991, Human pathology.

[6]  R. Haslam,et al.  Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia. , 1994, Pediatric neurology.

[7]  M. Norman,et al.  Multiple system atrophy with neuronal intranuclear hyaline inclusions Report of a case and review of the literature , 1985, Journal of the Neurological Sciences.

[8]  Thomas D. Bird,et al.  A familial neuronal disease presenting as intestinal pseudoobstruction , 1978 .

[9]  S. Ludwin,et al.  Adult‐onset neuronal intra nuclear hyaline inclusion disease , 1986, Neurology.

[10]  J. Aicardi,et al.  Neuronal intranuclear inclusion disease in a child: Diagnosis by rectal biopsy , 1990, Annals of neurology.

[11]  J. Palo,et al.  Neurofilament subunit–related proteins in neuronal intranuclear inclusions , 1984, Annals of neurology.

[12]  I. Janota.  WIDESPREAD INTRANUCLEAR NEURONAL CORPUSCLES (MARINESCO BODIES) ASSOCIATED WITH A FAMILIAL SPINAL DEGENERATION WITH CRANIAL AND PERIPHERAL NERVE INVOLVEMENT , 1979, Neuropathology and applied neurobiology.

[13]  T Muro,et al.  Neuronal intranuclear hyaline inclusion disease: report of a case and review of the literature. , 1990, Clinical neuropathology.

[14]  J. Sung,et al.  An Unusual Degenerative Disorder of Neurons Associated with a Novel Intranuclear Hyaline Inclusion (Neuronal Intranuclear Hyaline Inclusion Disease): A Clinicopathological Study of a Case , 1980, Journal of neuropathology and experimental neurology.

[15]  J. Barnett,et al.  Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. , 1992, Gastroenterology.

[16]  S. W. Davies,et al.  Are neuronal intranuclear inclusions the common neuropathology of triplet-repeat disorders with polyglutamine-repeat expansions? , 1998, The Lancet.