An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia

Barnes, D; Misra, V P; Young, E P; Thomas, P K; Harding, A E
December 1991
Journal of Neurology, Neurosurgery & Psychiatry;Dec1991, Vol. 54 Issue 12, p1112
Academic Journal
journal article
No abstract available.


Related Articles

  • A variable neurodegenerative phenotype with polymerase γ mutation. Stricker, S.; Prüss, H.; Horvath, R.; Baruffini, E.; Lodi, T.; Siebert, E.; Endres, M.; Zschenderlein, R.; Meisel, A. // Journal of Neurology, Neurosurgery & Psychiatry;Oct2009, Vol. 80 Issue 10, p8 

    The article discusses the effectiveness of mitochondrial DNA polymerase (POLG) to treat patients with autosomal dominant progressive external ophthalmoplegia (PEO), childhood hepato-encephalopathy, adult-onset spinocerebellar ataxia and sensory nerve degeneration with dysarthria. A case report...

  • A novel POLG gene mutation in a patient with SANDO. Kurt, Bulent; Naini, Ali B.; Copeland, William C.; Jiesheng Lu; DiMauro, Salvatore; Hirano, Michio // Journal of Experimental & Integrative Medicine;2012, Vol. 2 Issue 2, p181 

    The human mitochondrial genome is replicated by DNA polymerase γ, which is encoded by polymerase γ gene (POLG1) on chromosome 15q25. Patients with POLG1 mutations usually present as Alpers' syndrome or progressive external ophthalmoplegia. Our patient was a 48-year old woman with sensory...

  • Abstracts of the Ophthalmic Literature.  // American Orthoptic Journal;2010, Vol. 60, p110 

    The article presents abstracts on ophthalmic topics including a mechanism for Brown's syndrome, strabismus surgery for internuclear ophthalmoplegia with exotropia in multiple sclerosis, and treatment of anisometropic amblyopia.

  • Down Beat Nystagmus: Manifestation of Vitamin B12 Deficiency. Chaudhry, N.; Puri, V. // Annals of Indian Academy of Neurology;2007 Supplement 2, Vol. 10, p48 

    Vitamin B12 deficiency affects the peripheral nerves, spinal cord, optic nerves and brain. Ocular manifestations like downbeat nystagmus, paralysis of upgaze and internuclear ophthalmoplegia although rare, have been reported with this entity. These however do not occur in isolation, and are...

  • Síndrome de Kearns-Sayre: Reporte de caso y revisión de la literatura. Méndez-Herrera, Carlos Rafael // Revista Mexicana de Neurociencia;sep/oct2011, Vol. 12 Issue 5, p262 

    Kearns-Sayre syndrome is a rare mitochondrial disease characterized by chronic progressive external ophthalmoplegia and pigmentary retinopathy with onset before age 20. It is associated with a heterogeneous group of clinical manifestations, among which heart conduction disturbances, muscle...

  • Intravenous immunoglobulin treatment in painful sensory neuropathy without sensory ataxia associated with Sjögren's syndrome. Kizawa, M.; Mori, K.; Iijima, M.; Koike, H.; Hattori, N.; Sobue, Gen // Journal of Neurology, Neurosurgery & Psychiatry;Aug2006, Vol. 77 Issue 8, p967 

    Patients having neuropathy associated with Sjögren's syndrome may present with pain and superficial sensory involvement in the absence of sensory ataxia. Treatment for this form of associated neuropathy has not been established: The case of a patient with painful sensory neuropathy associated...

  • Internuclear ophthalmoplegia, abnormal CNS MRI and multifocal motor neuropathy in association with infliximab and methotrexate treatment.  // Canadian Journal of Neurological Sciences;May2003 Supplement 2, Vol. 30, pS53 

    Presents an abstract of the study 'Internuclear Ophthalmoplegia, Abnormal CNS MRI and Multifocal Motor Neuropathy in Association with Infliximab and Methotrexate Treatment' submitted to the 38th meeting of the Canadian Congress of Neurological Sciences.

  • Cranial nerve, brainstem and cerebellar syndromes in the differential diagnosis of multiple sclerosis. Zaffaroni, M.; Baldini, S. M.; Ghezzi, A. // Neurological Sciences;Nov2001 Supplement 2, Vol. 22, pS74 

    A clinically isolated syndrome indicating a pathological process involving the cranial nerves or the posterior fossa may constitute a hard diagnostic challenge for the clinician. Whereas internuclear ophthalmoplegia, for example, is almost pathognomonic of multiple sclerosis (MS), other clinical...

  • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Anna H. Hakonen; Pirjo Isohanni; Anders Paetau; Riitta Herva; Anu Suomalainen; Tuula Lönnqvist // Brain: A Journal of Neurology;Nov2007, Vol. 130 Issue 11, p3032 

    Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive external ophthalmoplegia (adPEO), and recessively inherited infantile onset spinocerebellar ataxia (IOSCA). We report here a new phenotype in two siblings with...

  • Wernekink commissure syndrome: a rare midbrain syndrome. Liu, Huayan; Qiao, Lei; He, Zhiyi // Neurological Sciences;Dec2012, Vol. 33 Issue 6, p1419 

    Wernekink commissure syndrome is a rare midbrain syndrome, which selectively destroys the Wernekink commissure involving the decussation of superior cerebellar peduncle in midbrain. This syndrome may display a clinical picture: bilateral cerebellar ataxia, eye movement disorders, and palatal...


Read the Article


Sign out of this library

Other Topics