Ataxia-Deafness-Retardation Syndrome in Three Sisters

Koletzko, Sibylle; Koletzko, Berthold; Lamprecht, A.; Lenard, H. G.

doi:10.1055/s-2008-1052429

Cited by 14 publications

(4 citation statements)

References 4 publications

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“…The patients of Berman et al3 (three male sibs) and of Koletzko et a14 (three daughters of consanguineous parents) had clinical features very much the same as our patients, only without cataracts. However, the progressive hearing disorder and the ataxia started in infancy in the patients of both Berman et al3 and Koletzko et al 4 We feel that the syndrome in our patients does not really match one of these syndromes and, especially, the congenital cataract is only seen in our patients. Inheritance is presumably autosomal recessive.…”

Section: Discussioncontrasting

confidence: 54%

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Begeer¹,

Scholte²,

Essen³

1991

Journal of Medical Genetics

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Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et a) and Koletzko et a].Ataxic syndromes combined with mental retardation have often been described'2 and sometimes these patients have other abnormal features.'-'0 Besides mental retardation and ataxia, our patients, two sisters, had congenital cataract, progressive hearing loss, and progressive polyneuropathy. We could find no similar combination of symptoms in published reports. Case reports CASE 1This 59 year old woman has had mild mental retardation from birth. She has a congenital cataract for which she has been operated upon three times. Unfortunately, more detailed information about the pregnancy, neonatal period, and early development is not available. She has small stature (1-55 m, 10th This woman is the 50 year old sister of case 1 and was also born with a congenital cataract for which she has been operated upon. She is mildly mentally retarded. Because of progressive hearing loss she has used a hearing aid since she was 40 years old. At

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Section: Discussioncontrasting

confidence: 54%

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Begeer¹,

Scholte²,

Essen³

1991

Journal of Medical Genetics

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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: 65%

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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“…In the majority of cases of ataxia with hypogonadism, the gonadal deficiency is secondary to decreased pituitary production of gonadotropins [Harding, 1984]. Within this group, ataxia and hypogonadism may be the only abnormalities [Volpe et al, 1963], or there may be associated features including mental retardation and deafness [Koletzko et al, 1987; Reardon et al, 1993; Richards and Rundle, 1959], and choroidal dystrophy [Limber et al, 1989]. Inheritance is autosomal recessive in most cases.…”

Section: Introductionmentioning

confidence: 99%

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

et al. 2001

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Cerebellar ataxia and hypergonadotropic hypogonadism comprise a rare and presumably heterogeneous association. Inheritance in most cases appears to be autosomal recessive, and associated features include deafness, intellectual impairment, and neuropathy. Typically, onset of ataxia is in the first decade and hypogonadism results in primary amenorrhoea in females. We describe two sisters with a previously undescribed pattern of adult onset progressive cerebellar ataxia and secondary amenorrhoea due to hypergonadotropic hypogonadism. Sensorineural deafness with vestibular hypofunction and peripheral sensory impairment were also present, and intellect was normal. Onset of neurological symptoms was in the third decade, with secondary amenorrhoea occurring at the ages of 16 and 32 years, respectively. The association of ataxia and hypergonadotropic hypergonadism has been classified both as a variant of Holmes type ataxia and as a variant of Perrault syndrome, but we suggest the use of a separate category of ataxia with hypergonadotropic hypogonadism.

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Ataxia-Deafness-Retardation Syndrome in Three Sisters

Cited by 14 publications

References 4 publications

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

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)

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

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