A New Familial Syndrome With Ataxia, Hearing Loss, and Mental Retardation

Berman, Wulfred; Haslam, Robert H. A.; Konigsmark, Bruce W.; Capute, Arnold J.; Migeon, Claude J.

doi:10.1001/archneur.1973.00490280070010

Cited by 20 publications

(3 citation statements)

References 6 publications

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“…The hearing loss associated with the present syndrome links this case with a familial syndrome with ataxia, hearing loss, and mental retardation described by several authors ( Berman et al, 1973 ; Koletzko et al, 1987 ; Begeer et al, 1991 ; Koskinen et al, 1994 ) , where hearing loss had been confirmed by audiometry‐ and/or brainstem‐evoked auditory potentials, although sural nerves have not been studied in these cases, and in HMSN‐LOM where there is hearing loss and progressive loss of nerve fibers in the sural nerve ( Kalaydjieva et al, 1996 ; Baethmann et al, 1998 ; King et al, 1999 ). The neuropathologic correlation to the hearing deficit in our patient may possibly, but cannot unequivocally, be attributed to some shrunken or hypereosinophilic neurons in the vestibulo‐cochlear nuclei, because other brainstem nuclei of cranial nerves were likewise affected.…”

Section: Discussionsupporting

confidence: 64%

“…Presumably there is a link of this type of neuropathy (with lack of large myelinated nerve fibers) to those with predominant degeneration of large sensory neurons, such as is seen in Friedreich's ataxia ( Jipimolmard et al, 1993 ) , and probably in other cases with peripheral nerve involvement and cerebellar ataxia in which peripheral nerves have not or have only incompletely been studied by biopsy ( Berman et al, 1973 ; Koskinen et al, 1994 ).…”

Section: Discussionmentioning

confidence: 99%

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Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN‐ADM)

Müller

Mugler

Ramaekers

et al. 2000

J Peripheral Nervous Sys

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Hereditary motor and sensory neuropathy (HMSN) with autosomal recessive inheritance represents a genetically heterogeneous group of disorders with variable clinical, pathologic and electrophysiologic manifestations. A new variant of autosomal recessive HMSN, clinically defined by sensorimotor polyneuropathy associated with deafness and mental retardation, has recently been described. We report on the first autopsy case with this type of HMSN: a girl of non-consanguineous parents with a presumably autosomal recessive type of motor and sensory neuropathy clinically associated with deafness, mental retardation, and epilepsy. The autopsy showed complete absence of large myelinated fibers in peripheral motor and sensory nerves corresponding to a lack of large neurons in dorsal root ganglia and anterior horns of the spinal cord, moderate neurogenic muscle atrophy, and nearly complete absence of neurons in the dentate nucleus of the cerebellum. Molecular genetic analyses in our case revealed neither genetic alterations in the survival motor neuron gene nor in the PMP-22 gene.

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Section: Discussionsupporting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN‐ADM)

Müller

Mugler

Ramaekers

et al. 2000

J Peripheral Nervous Sys

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“…Progressive ophthalmoplegia and ataxia 12 6. Ataxia, deafness and mental retardation (ADR syndrome) 7 2. Childhood and adolescence onset (Type II) Type Ila 1.…”

Section: Methodsmentioning

confidence: 99%

A Tentative Classification of Recessively Inherited Ataxias

Barbeau¹

1982

Can. j. neurol. sci.

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ABSTRACT:We present a working classification of recessively inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset) and a good neurological examination (simplified to the verification of the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). In the three groups of disorders (non progressive, intermittent or progressive) patients can be hyper/normo reflexic, or they can be hypolareflexic. Six principal types of progressive ataxic disorders are further delineated by the age of onset. Sub-types depend on the presence or absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity while awaiting exact delineation of the biochemical defects.

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