bladder sphincter dysfunction

Spinocerebellar Ataxia 42

Clinical Characteristics

Ocular Features:

Saccadic eye movements with nystagmus and diplopia have been reported (7 of 10 reported patients).

Systemic Features:

Cerebellar signs usually have their onset in midlife or later with slow progression. Most patients are mildly to moderately disabled. Dysarthria, dysphagia, and a spastic gait are experienced by the majority of individuals. Hyperreflexia and a positive Babinski sign are commonly presently. Mild cognitive impairment and depression have been seen in a minority of patients.

Brain MRIs show cerebellar hemispheric and vermian atrophy. The cerebral cortex appeared histologically normal in one deceased patient.

Genetics

This disorder is caused by heterozygous mutations in the CACNA1G gene (17q21.33).

Pedigree:

Autosomal dominant

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Morino H, Matsuda Y, Muguruma K, Miyamoto R, Ohsawa R, Ohtake T, Otobe R, Watanabe M, Maruyama H, Hashimoto K, Kawakami H. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Mol Brain. 2015 Dec 29;8:89.

PubMed ID:

26715324

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G. A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. Am J Hum Genet. 2015 Nov 5;97(5):726-37.

PubMed ID:

26456284

Spastic Paraplegia 11

Clinical Characteristics

Ocular Features:

Gaze evoked nystagmus and pigmentation in the macula are components of this syndrome and adults have some degree of retinal degeneration with poor vision eventually. Optic atrophy and ptosis have been reported but rarely.

Systemic Features:

his progressive condition nay have its onset in childhood or early adolescence although rarely it first appears in adulthood. Obesity is a component in older individuals. Loss of ambulation usually occurs within 10 years of the onset of gait difficulties. Hyperreflexia and spasticity develop early while ataxia, urinary sphincter disturbances, extensor plantar responses, and dysarthria appear later. Amyotrophy is frequently seen in the thenar and hypothenar muscles. Children have learning difficulties while cognitive decline and frank mental retardation occur somewhat later.

Peripheral nerve biopsy may reveal hypomyelination and loss of unmyelinated nerve fibers. MRI imaging in some individuals shows a thin or absent corpus callosum and cortical atrophy.

Genetics

Homozygous mutations in the gene SPG11 (15q21.1) encoding spatacsin are responsible for this disorder.

See spastic paraplegia 15 (Kjellin syndrome) (270700) and spastic paraplegia 7 (607259) for other disorders with retinal degeneration, optic atrophy, and nystagmus.

Pedigree:

Autosomal recessive

Treatment

Treatment Options:

None known.

References

Article Title:

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Orlen H, Melberg A, Raininko R, Kumlien E, Entesarian M, Soderberg P, Pahlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92.

PubMed ID:

19194956

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar;39(3):366-72.

PubMed ID:

17322883

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